#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CFAP74	85452	broad.mit.edu	37	1	1896365	1896365	+	IGR	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:1896365G>A								TMEM52 (45653 upstream) : C1orf222 (23197 downstream)																							TTGAAGGGGCGTCCTTGGAAC	0.662																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1537-1539)Cgc>Tgc		Homo sapiens KIAA1751 (KIAA1751), mRNA.							41.0	48.0	46.0					1																	1896365		2084	4208	6292	SO:0001628	intergenic_variant	85452							g.chr1:1896365G>A																													1.37:g.1896365G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	p.R513C	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	12	1693	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	513						Missense_Mutation	SNP		37	c.1537C>T		.	.	.	.	.	.	.	.	.	.	g	10.38	1.335260	0.24253	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	-2.13	0.07144	.	1.034790	0.07624	N	0.927548	T	0.42381	0.1200	L	0.28344	0.845	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.14023	0.01;0.001	T	0.11743	-1.0575	9	0.45353	T	0.12	-2.5908	9.6237	0.39737	0.7244:0.0:0.2756:0.0	.	513;513	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	C	513	.	ENSP00000270720:R513C	R	-	1	0	C1orf222	1886225	0.001000	0.12720	0.080000	0.20451	0.490000	0.33462	-0.187000	0.09656	-0.463000	0.06973	0.556000	0.70494	CGC	0	0.662								
RBMXL1	494115	broad.mit.edu	37	1	89448410	89448410	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:89448410C>T	ENST00000321792.5	-	2	1527	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.S367N|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	367	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGCTCCGCGGCTTGAACTGCT	0.517																																						uc021opo.1																			0											c.(1099-1101)aGc>aAc		Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.							99.0	103.0	101.0					1																	89448410		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448410C>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1100G>A	1.37:g.89448410C>T	ENSP00000318415:p.Ser367Asn					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S367N|RBMXL1_uc001dms.3_Missense_Mutation_p.S367N	p.S367N	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN			0	1100	-			367			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.1100G>A	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570017	0.45798	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.79554	-1.28;-1.28	1.58	1.58	0.23477	.	0.046417	0.85682	U	0.000000	T	0.74566	0.3733	M	0.62723	1.935	0.34099	D	0.661682	P	0.51653	0.947	P	0.53490	0.727	T	0.72972	-0.4129	10	0.46703	T	0.11	-5.2319	8.7355	0.34525	0.0:1.0:0.0:0.0	.	367	Q96E39	RBMXL_HUMAN	N	367	ENSP00000318415:S367N;ENSP00000446099:S367N	ENSP00000318415:S367N	S	-	2	0	RBMXL1	89220998	1.000000	0.71417	0.736000	0.30914	0.904000	0.53231	4.995000	0.63908	0.878000	0.35920	0.306000	0.20318	AGC		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
GFI1	2672	broad.mit.edu	37	1	92946526	92946526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:92946526G>A	ENST00000370332.1	-	4	736	c.418C>T	c.(418-420)Cga>Tga	p.R140*	GFI1_ENST00000427103.1_Nonsense_Mutation_p.R140*|GFI1_ENST00000294702.5_Nonsense_Mutation_p.R140*|GFI1_ENST00000483490.1_5'Flank	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	140	Required for interaction with RELA.				auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCACACGGTCGGTAGCTCTGC	0.716																																						uc001dou.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(418-420)Cga>Tga		Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.							12.0	14.0	13.0					1																	92946526		2199	4298	6497	SO:0001587	stop_gained	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92946526G>A	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.418C>T	1.37:g.92946526G>A	ENSP00000359357:p.Arg140*					GFI1_uc001dov.4_Nonsense_Mutation_p.R140*|GFI1_uc001dow.4_Nonsense_Mutation_p.R140*	p.R140*	NM_001127215	NP_005254	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	3	582	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	140					Q8N564	Nonsense_Mutation	SNP	ENST00000370332.1	37	c.418C>T	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	g	37	6.363076	0.97507	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	.	.	.	4.07	1.02	0.19986	.	0.508000	0.20832	N	0.084869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3847	14.5963	0.68410	0.0:0.0:0.4194:0.5806	.	.	.	.	X	140	.	ENSP00000294702:R140X	R	-	1	2	GFI1	92719114	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	1.634000	0.37123	0.108000	0.17862	0.457000	0.33378	CGA		0.716	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263	
DENND2C	163259	broad.mit.edu	37	1	115165651	115165651	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:115165651G>T	ENST00000393274.1	-	6	1638	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	DENND2C_ENST00000393276.3_Missense_Mutation_p.A338E|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.A338E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	338					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCTTCCATGCTGAAGGGGA	0.343																																						uc001efd.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1012-1014)gCa>gAa		Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.							140.0	152.0	148.0					1																	115165651		2203	4300	6503	SO:0001583	missense	163259							g.chr1:115165651G>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1013C>A	1.37:g.115165651G>T	ENSP00000376955:p.Ala338Glu					DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	p.A338E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1715	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	338					B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	c.1013C>A	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841702	0.32513	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.09073	3.58;3.67;3.02	5.53	4.61	0.57282	.	0.461649	0.22527	N	0.058883	T	0.03348	0.0097	L	0.40543	1.245	0.28624	N	0.908024	B;B	0.33413	0.411;0.397	B;B	0.36335	0.111;0.222	T	0.37596	-0.9699	10	0.25106	T	0.35	.	11.4685	0.50254	0.1346:0.0:0.8654:0.0	.	338;338	Q68D51;Q68D51-3	DEN2C_HUMAN;.	E	338	ENSP00000376957:A338E;ENSP00000376955:A338E;ENSP00000376958:A338E	ENSP00000358553:A338E	A	-	2	0	DENND2C	114967174	0.948000	0.32251	1.000000	0.80357	0.893000	0.52053	3.921000	0.56454	2.763000	0.94921	0.563000	0.77884	GCA		0.343	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	
USH2A	7399	broad.mit.edu	37	1	216595737	216595737	+	De_novo_Start_OutOfFrame	SNP	C	C	T	rs539639539		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:216595737C>T	ENST00000307340.3	-	0	328				USH2A_ENST00000366943.2_De_novo_Start_OutOfFrame|USH2A_ENST00000366942.3_De_novo_Start_OutOfFrame	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCAGGCCCACGCCACTTGCC	0.408										HNSCC(13;0.011)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		18859	0.0		0.0	False		,,,				2504	0.0					uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527								Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.																																						7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595737C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.-59G>A	1.37:g.216595737C>T		HNSCC(13;0.011)				USH2A_uc001hkv.3_5'UTR		NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	1		-								Q5VVM9|Q6S362|Q9NS27	Translation_Start_Site	SNP	ENST00000307340.3	37		CCDS31025.1																																																																																				0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
HHIPL2	79802	broad.mit.edu	37	1	222717477	222717477	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:222717477G>C	ENST00000343410.6	-	2	434	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	126					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGATTCCGGAGAGGCGTCTGG	0.587																																						uc001hnh.1																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(376-378)Ctc>Gtc		Homo sapiens HHIP-like 2 (HHIPL2), mRNA.							87.0	100.0	96.0					1																	222717477		1952	4142	6094	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717477G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.376C>G	1.37:g.222717477G>C	ENSP00000342118:p.Leu126Val						p.L126V	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	434	-			126					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.376C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	6.553	0.470360	0.12461	.	.	ENSG00000143512	ENST00000343410	T	0.43294	0.95	5.59	5.59	0.84812	Folate receptor-like (1);	0.066084	0.64402	D	0.000013	T	0.38746	0.1052	L	0.45422	1.42	0.39239	D	0.963829	B	0.14438	0.01	B	0.18263	0.021	T	0.22208	-1.0223	10	0.18710	T	0.47	-32.3962	19.1777	0.93609	0.0:0.0:1.0:0.0	.	126	Q6UWX4	HIPL2_HUMAN	V	126	ENSP00000342118:L126V	ENSP00000342118:L126V	L	-	1	0	HHIPL2	220784100	0.993000	0.37304	0.931000	0.37212	0.002000	0.02628	2.418000	0.44662	2.606000	0.88127	0.591000	0.81541	CTC		0.587	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
SNAP47	116841	broad.mit.edu	37	1	227935725	227935725	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:227935725T>A	ENST00000366759.4	+	2	837	c.423T>A	c.(421-423)caT>caA	p.H141Q	SNAP47_ENST00000315781.5_Missense_Mutation_p.H141Q|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	141					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCATCGAGCATTTCTGGAGGG	0.597																																						uc001hrf.2																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(421-423)caT>caA		Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.							70.0	64.0	66.0					1																	227935725		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935725T>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.423T>A	1.37:g.227935725T>A	ENSP00000355721:p.His141Gln					SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.H141Q|SNAP47_uc001hre.3_Intron	p.H141Q	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			1	837	+			141					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.423T>A	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.18|17.18	3.324955|3.324955	0.60634|0.60634	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000426344|ENST00000366759;ENST00000315781	.|T;T	.|0.43294	.|0.95;0.95	4.35|4.35	-1.91|-1.91	0.07641|0.07641	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58991|0.58991	0.2161|0.2161	M|M	0.80616|0.80616	2.505|2.505	0.46701|0.46701	D|D	0.999168|0.999168	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	T|T	0.58572|0.58572	-0.7613|-0.7613	5|10	.|0.87932	.|D	.|0	-7.558|-7.558	9.001|9.001	0.36081|0.36081	0.0:0.4344:0.0:0.5656|0.0:0.4344:0.0:0.5656	.|.	.|141;141	.|Q5SQN1;Q5SQN1-2	.|SNP47_HUMAN;.	I|Q	133|141	.|ENSP00000355721:H141Q;ENSP00000314157:H141Q	.|ENSP00000314157:H141Q	F|H	+|+	1|3	0|2	SNAP47|SNAP47	226002348|226002348	0.985000|0.985000	0.35326|0.35326	0.986000|0.986000	0.45419|0.45419	0.605000|0.605000	0.37080|0.37080	0.135000|0.135000	0.15952|0.15952	-0.547000|-0.547000	0.06207|0.06207	-0.462000|-0.462000	0.05337|0.05337	TTT|CAT		0.597	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052	
OR6F1	343169	broad.mit.edu	37	1	247875632	247875632	+	Silent	SNP	C	C	T	rs373540517		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:247875632C>T	ENST00000302084.2	-	1	473	c.426G>A	c.(424-426)gcG>gcA	p.A142A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGCCAGCTGCGCTGAGAGCA	0.597																																						uc001idj.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(424-426)gcG>gcA		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.		C		0,4406		0,0,2203	66.0	70.0	69.0		426	-8.0	0.0	1		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6F1	NM_001005286.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		142/309	247875632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875632C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.426G>A	1.37:g.247875632C>T							p.A142A	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	426	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		142					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.426G>A	CCDS31095.1																																																																																				0.597	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
IL15RA	3601	broad.mit.edu	37	10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:5995110C>A	ENST00000379977.3	-	7	849	c.752G>T	c.(751-753)tGg>tTg	p.W251L	IL15RA_ENST00000397248.2_Missense_Mutation_p.W215L|IL15RA_ENST00000397251.3_Missense_Mutation_p.W186L|IL15RA_ENST00000528354.1_Missense_Mutation_p.W218L|IL15RA_ENST00000397250.2_Missense_Mutation_p.W153L|IL15RA_ENST00000525219.2_Missense_Mutation_p.W215L|IL15RA_ENST00000534292.1_5'UTR			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	251					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557																																						uc021pmo.1																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1009-1011)tGg>tTg		Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.							81.0	81.0	81.0					10																	5995110		2203	4300	6503	SO:0001583	missense	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:5995110C>A	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.752G>T	10.37:g.5995110C>A	ENSP00000369312:p.Trp251Leu					IL15RA_uc010qau.2_Missense_Mutation_p.W218L|IL15RA_uc021pmp.1_Missense_Mutation_p.W188L|IL15RA_uc001iiv.3_Missense_Mutation_p.W251L|IL15RA_uc001iiw.3_Missense_Mutation_p.W215L|IL15RA_uc001iiy.3_Missense_Mutation_p.W99L	p.W337L	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN			7	1024	-			251					B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	ENST00000379977.3	37	c.1010G>T	CCDS7074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.414|6.414	0.444477|0.444477	0.12164|0.12164	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000532039|ENST00000397251;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000397250	.|T;T;T;T;T	.|0.40225	.|1.04;1.05;1.06;2.04;1.04	3.4|3.4	1.4|1.4	0.22301|0.22301	.|.	.|0.556218	.|0.14484	.|N	.|0.316770	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.19095|0.19095	-1.0316|-1.0316	5|10	.|0.23891	.|T	.|0.37	-24.3979|-24.3979	5.6406|5.6406	0.17562|0.17562	0.2388:0.5506:0.2106:0.0|0.2388:0.5506:0.2106:0.0	.|.	.|218;251	.|Q13261-3;Q13261	.|.;I15RA_HUMAN	W|L	193|186;251;215;215;218;153	.|ENSP00000380423:W186L;ENSP00000369312:W251L;ENSP00000380421:W215L;ENSP00000435454:W218L;ENSP00000380422:W153L	.|ENSP00000322245:W215L	G|W	-|-	1|2	0|0	IL15RA|IL15RA	6035116|6035116	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.285000|-0.285000	0.08410|0.08410	0.373000|0.373000	0.24621|0.24621	0.313000|0.313000	0.20887|0.20887	GGG|TGG		0.557	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	NM_172200, NM_002189	
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						uc001jix.4																			2	Substitution - Missense(2)	p.S127I(4)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(379-381)aGc>aTc		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile						p.S127I	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN			3	778	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.380G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	
DUSP13	51207	broad.mit.edu	37	10	76867879	76867879	+	Missense_Mutation	SNP	C	C	T	rs200260267	byFrequency	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:76867879C>T	ENST00000372702.3	-	2	301	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000607131.1_Intron			Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	88					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGTCAGGGCCGCCCTGACAG	0.622													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		18517	0.0		0.0	False		,,,				2504	0.0				NSCLC(174;1655 2059 12324 40663 42963)	uc001jws.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(238-240)Ggc>Agc		Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.		C	SER/GLY,,	3,4069		0,3,2033	42.0	50.0	47.0		238,,	0.1	0.1	10		47	0,8326		0,0,4163	yes	missense,intron,intron	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	56,,	0,3,6196	TT,TC,CC		0.0,0.0737,0.0242	,,	80/189,,	76867879	3,12395	2036	4163	6199	SO:0001583	missense	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76867879C>T	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000372702.3:c.238G>A	10.37:g.76867879C>T	ENSP00000361787:p.Gly80Ser					DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	p.G80S	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN			1	293	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		80			Tyrosine-protein phosphatase.		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000372702.3	37	c.238G>A	CCDS53542.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602132	0.46423	7.37E-4	0.0	ENSG00000079393	ENST00000372702	T	0.59772	0.24	5.2	0.144	0.14824	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.	.	.	.	T	0.42854	0.1221	L	0.43554	1.36	0.09310	N	0.999997	B	0.29378	0.243	B	0.27380	0.079	T	0.23476	-1.0187	9	0.26408	T	0.33	.	5.7868	0.18338	0.0:0.3554:0.1421:0.5025	.	80	Q6B8I1	MDSP_HUMAN	S	80	ENSP00000361787:G80S	ENSP00000361787:G80S	G	-	1	0	DUSP13	76537885	0.000000	0.05858	0.056000	0.19401	0.973000	0.67179	-0.125000	0.10579	-0.128000	0.11641	-0.140000	0.14226	GGC		0.622	DUSP13-012	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401503.3		
MUC2	4583	broad.mit.edu	37	11	1078153	1078153	+	Missense_Mutation	SNP	G	G	T	rs375827711		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:1078153G>T	ENST00000441003.2	+	4	547	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C	MUC2_ENST00000359061.5_Missense_Mutation_p.G174C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	174	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACTACAACGGCCTGCAGAG	0.667																																						uc001lsx.1																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(520-522)Ggc>Tgc		Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	Pranlukast(DB01411)						17.0	20.0	19.0					11																	1078153		1871	4094	5965	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1078153G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.520G>T	11.37:g.1078153G>T	ENSP00000415183:p.Gly174Cys						p.G174C	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	547	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	174			VWFD 1.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.520G>T		.	.	.	.	.	.	.	.	.	.	G	13.91	2.378173	0.42105	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.65178	-0.14;-0.14	3.5	3.5	0.40072	.	0.083573	0.45867	U	0.000340	T	0.82144	0.4973	M	0.91140	3.18	0.51482	D	0.999924	D	0.89917	1.0	D	0.97110	1.0	D	0.86791	0.1985	10	0.72032	D	0.01	.	14.1637	0.65464	0.0:0.0:1.0:0.0	.	174	E7EUV1	.	C	174	ENSP00000415183:G174C;ENSP00000351956:G174C	ENSP00000351956:G174C	G	+	1	0	MUC2	1068153	1.000000	0.71417	0.481000	0.27354	0.550000	0.35303	7.546000	0.82137	1.772000	0.52199	0.511000	0.50034	GGC		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
UBQLN3	50613	broad.mit.edu	37	11	5529867	5529867	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:5529867A>T	ENST00000311659.4	-	2	1069	c.922T>A	c.(922-924)Tcc>Acc	p.S308T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	308										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTGTGGAAGTCCAGGGG	0.517																																					Ovarian(72;684 1260 12332 41642 52180)	uc021qcw.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(922-924)Tcc>Acc		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							96.0	78.0	84.0					11																	5529867		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529867A>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.922T>A	11.37:g.5529867A>T	ENSP00000347997:p.Ser308Thr					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S308T	p.S308T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	922	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	308					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.922T>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	5.176	0.218004	0.09810	.	.	ENSG00000175520	ENST00000311659	T	0.38077	1.16	5.52	0.327	0.15913	.	0.504055	0.16833	N	0.197653	T	0.24353	0.0590	M	0.67397	2.05	0.29240	N	0.872711	B	0.27380	0.177	B	0.18561	0.022	T	0.12091	-1.0561	10	0.13853	T	0.58	-28.6688	1.0623	0.01603	0.3857:0.2992:0.1706:0.1445	.	308	Q9H347	UBQL3_HUMAN	T	308	ENSP00000347997:S308T	ENSP00000347997:S308T	S	-	1	0	UBQLN3	5486443	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	0.753000	0.26376	0.445000	0.26639	0.482000	0.46254	TCC		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
GYLTL1B	120071	broad.mit.edu	37	11	45946107	45946107	+	Silent	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:45946107A>C	ENST00000531526.1	+	5	654	c.543A>C	c.(541-543)ctA>ctC	p.L181L	GYLTL1B_ENST00000325468.5_Silent_p.L181L|GYLTL1B_ENST00000529052.1_Silent_p.L150L|GYLTL1B_ENST00000401752.1_Silent_p.L181L|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000536139.1_Silent_p.L150L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	181					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCTATGGGCTAATGAAGCTGG	0.612																																						uc001nbv.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(541-543)ctA>ctC		Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.							86.0	85.0	85.0					11																	45946107		2203	4299	6502	SO:0001819	synonymous_variant	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45946107A>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.543A>C	11.37:g.45946107A>C						GYLTL1B_uc001nbw.1_Silent_p.L150L|GYLTL1B_uc001nbx.1_Silent_p.L181L	p.L181L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	4	654	+			181					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	c.543A>C	CCDS31473.1																																																																																				0.612	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
OR4S2	219431	broad.mit.edu	37	11	55419288	55419288	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:55419288T>A	ENST00000312422.2	+	1	909	c.909T>A	c.(907-909)aaT>aaA	p.N303K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGCAGAAATGTTTTCTTGG	0.358																																						uc001nhs.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(907-909)aaT>aaA		Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.							107.0	103.0	104.0					11																	55419288		2176	4020	6196	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419288T>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.909T>A	11.37:g.55419288T>A	ENSP00000310337:p.Asn303Lys						p.N303K	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			0	909	+		all_epithelial(135;0.0748)	303					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.909T>A	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	6.047	0.376983	0.11466	.	.	ENSG00000174982	ENST00000312422	T	0.34072	1.38	5.35	-3.58	0.04597	.	0.536624	0.16742	N	0.201410	T	0.08044	0.0201	N	0.01493	-0.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	10	0.02654	T	1	.	4.7514	0.13063	0.3086:0.0:0.2249:0.4665	.	303	Q8NH73	OR4S2_HUMAN	K	303	ENSP00000310337:N303K	ENSP00000310337:N303K	N	+	3	2	OR4S2	55175864	0.000000	0.05858	0.000000	0.03702	0.639000	0.38242	-2.061000	0.01391	-0.297000	0.08934	0.443000	0.29094	AAT		0.358	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
MRE11A	4361	broad.mit.edu	37	11	94192689	94192689	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94192689A>T	ENST00000323929.3	-	13	1607	c.1385T>A	c.(1384-1386)gTg>gAg	p.V462E	MRE11A_ENST00000407439.3_Missense_Mutation_p.V465E|MRE11A_ENST00000323977.3_Missense_Mutation_p.V462E|MRE11A_ENST00000393241.4_Missense_Mutation_p.V462E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	462					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTCCTTGTCCACAAATTCTTG	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc009ywj.2																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1393-1395)gTg>gAg	Homologous recombination	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.							179.0	163.0	169.0					11																	94192689		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94192689A>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1385T>A	11.37:g.94192689A>T	ENSP00000325863:p.Val462Glu					MRE11A_uc001peu.2_Missense_Mutation_p.V462E|MRE11A_uc001pev.2_Missense_Mutation_p.V462E	p.V465E			P49959	MRE11_HUMAN			12	1714	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	462					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1394T>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930668	0.92389	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;T;D	0.81579	-1.5;-1.51;-1.47;-1.5	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.89753	0.6806	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.996;0.992	D	0.90966	0.4816	10	0.87932	D	0	-17.7919	16.125	0.81386	1.0:0.0:0.0:0.0	.	465;462;462	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	E	462;465;462;462	ENSP00000325863:V462E;ENSP00000385614:V465E;ENSP00000326094:V462E;ENSP00000376933:V462E	ENSP00000325863:V462E	V	-	2	0	MRE11A	93832337	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.262000	0.95591	2.213000	0.71641	0.397000	0.26171	GTG		0.398	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
PIWIL4	143689	broad.mit.edu	37	11	94328516	94328516	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94328516G>A	ENST00000299001.6	+	10	1403	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	398					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGATGAAGGCTGTGGCTGA	0.502																																						uc001pfa.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1192-1194)Gct>Act		Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.							120.0	109.0	113.0					11																	94328516		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94328516G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1192G>A	11.37:g.94328516G>A	ENSP00000299001:p.Ala398Thr					PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	p.A398T	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			9	1403	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	398					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.1192G>A	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359515	0.61403	.	.	ENSG00000134627	ENST00000299001	T	0.14893	2.47	4.73	1.77	0.24775	Argonaute/Dicer protein, PAZ (3);	0.319059	0.25047	N	0.033553	T	0.16041	0.0386	L	0.60904	1.88	0.80722	D	1	B	0.32893	0.389	B	0.33121	0.158	T	0.05053	-1.0909	10	0.29301	T	0.29	-7.5925	9.4494	0.38717	0.2468:0.0:0.7532:0.0	.	398	Q7Z3Z4	PIWL4_HUMAN	T	398	ENSP00000299001:A398T	ENSP00000299001:A398T	A	+	1	0	PIWIL4	93968164	1.000000	0.71417	0.989000	0.46669	0.784000	0.44337	3.959000	0.56744	0.607000	0.29982	-0.258000	0.10820	GCT		0.502	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
INHBE	83729	broad.mit.edu	37	12	57849443	57849443	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:57849443C>G	ENST00000266646.2	+	1	340	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	42					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGAACGAGCTCTGGTGCTGGA	0.622																																					GBM(191;1808 2166 15720 36624 50371)	uc001snw.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(124-126)Ctg>Gtg		Homo sapiens inhibin, beta E (INHBE), mRNA.							66.0	60.0	62.0					12																	57849443		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849443C>G		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.124C>G	12.37:g.57849443C>G	ENSP00000266646:p.Leu42Val						p.L42V	NM_031479	NP_113667	P58166	INHBE_HUMAN			0	348	+			42						Missense_Mutation	SNP	ENST00000266646.2	37	c.124C>G	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629831	0.28978	.	.	ENSG00000139269	ENST00000266646	T	0.64991	-0.13	4.8	3.9	0.45041	Transforming growth factor-beta, N-terminal (1);	0.756621	0.11980	N	0.510845	T	0.60038	0.2238	M	0.62016	1.91	0.32555	N	0.531882	B	0.12630	0.006	B	0.20955	0.032	T	0.63598	-0.6601	10	0.40728	T	0.16	-0.2294	11.3348	0.49498	0.0:0.8173:0.1827:0.0	.	42	P58166	INHBE_HUMAN	V	42	ENSP00000266646:L42V	ENSP00000266646:L42V	L	+	1	2	INHBE	56135710	0.920000	0.31207	1.000000	0.80357	0.996000	0.88848	0.270000	0.18607	1.368000	0.46115	0.655000	0.94253	CTG		0.622	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479	
EP400NL	347918	broad.mit.edu	37	12	132589038	132589038	+	Missense_Mutation	SNP	A	A	G	rs371896558		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:132589038A>G	ENST00000376625.4	+	1	499	c.473A>G	c.(472-474)gAc>gGc	p.D158G	EP400NL_ENST00000443539.2_Intron|EP400NL_ENST00000361109.5_Intron|EP400NL_ENST00000392352.1_Intron|EP400NL_ENST00000389560.2_Missense_Mutation_p.D89G			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	158										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CCTACAGGGGACTTCGTGGAT	0.667																																						uc001ujv.3																			0				endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						c.(472-474)gAc>gGc		Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.							58.0	84.0	76.0					12																	132589038		640	1586	2226	SO:0001583	missense	347918							g.chr12:132589038A>G	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.473A>G	12.37:g.132589038A>G	ENSP00000365812:p.Asp158Gly					EP400NL_uc001ujr.2_Intron|EP400NL_uc001ujs.4_Missense_Mutation_p.D89G|EP400NL_uc009zyq.3_Intron|EP400NL_uc001ujt.3_Intron|EP400NL_uc001ujw.1_5'Flank	p.D158G							0	497	+								A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	ENST00000376625.4	37	c.473A>G		.	.	.	.	.	.	.	.	.	.	G	0	-2.726385	0.00091	.	.	ENSG00000185684	ENST00000454179;ENST00000389560;ENST00000539205;ENST00000376625	.	.	.	2.99	2.08	0.27032	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	P	0.999999999999109	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37731	-0.9693	6	0.02654	T	1	.	8.8159	0.34996	0.1955:0.0:0.8045:0.0	.	158;158	Q6ZTU2-6;Q6ZTU2	.;E400N_HUMAN	G	89;89;89;158	.	ENSP00000328997:D90G	D	+	2	0	EP400NL	131154991	1.000000	0.71417	0.343000	0.25615	0.003000	0.03518	5.797000	0.69087	-0.019000	0.14055	-1.741000	0.00685	GAC		0.667	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613	
KCNRG	283518	broad.mit.edu	37	13	50589662	50589662	+	Silent	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:50589662G>C	ENST00000312942.1	+	1	273	c.33G>C	c.(31-33)gtG>gtC	p.V11V	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Silent_p.V11V|TRIM13_ENST00000478111.1_Intron	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	11	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTTTGAATGTGGGAGGGAAGA	0.433																																						uc001vdu.3																			0		p.V11M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(31-33)gtG>gtC		Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.							146.0	152.0	150.0					13																	50589662		2203	4300	6503	SO:0001819	synonymous_variant	283518					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	g.chr13:50589662G>C		CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.33G>C	13.37:g.50589662G>C						DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	p.V11V	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)	0	273	+		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	11			BTB.		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Silent	SNP	ENST00000312942.1	37	c.33G>C	CCDS9424.1																																																																																				0.433	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1		
NEK3	4752	broad.mit.edu	37	13	52715184	52715184	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:52715184A>G	ENST00000339406.3	-	11	1274	c.899T>C	c.(898-900)aTa>aCa	p.I300T	NEK3_ENST00000452082.2_Intron|NEK3_ENST00000400357.2_Intron|NEK3_ENST00000378101.2_Missense_Mutation_p.I300T	NM_001146099.1|NM_002498.2	NP_001139571.1|NP_002489.1	P51956	NEK3_HUMAN	NIMA-related kinase 3	300					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCCAAAGCTATCCTGATTCT	0.428																																						uc001vgh.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18								Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.							63.0	61.0	61.0					13																	52715184		1829	4079	5908	SO:0001583	missense	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52715184A>G	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000339406.3:c.899T>C	13.37:g.52715184A>G	ENSP00000339429:p.Ile300Thr					NEK3_uc001vgi.3_Missense_Mutation_p.I299T|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Intron		NM_001146099	NP_001139571	P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)			-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)						A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000339406.3	37			.	.	.	.	.	.	.	.	.	.	A	0.283	-0.985230	0.02180	.	.	ENSG00000136098	ENST00000339406;ENST00000378101	T;T	0.68903	-0.36;-0.36	5.1	-2.39	0.06602	.	1.092110	0.06896	N	0.805194	T	0.42200	0.1192	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17349	-1.0372	9	0.13853	T	0.58	.	5.5692	0.17187	0.3557:0.4652:0.1791:0.0	.	300	P51956	NEK3_HUMAN	T	300	ENSP00000339429:I300T;ENSP00000367341:I300T	ENSP00000339429:I300T	I	-	2	0	NEK3	51613185	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.248000	0.18198	-0.665000	0.05317	-0.313000	0.08912	ATA		0.428	NEK3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
CTSG	1511	broad.mit.edu	37	14	25043567	25043567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:25043567G>A	ENST00000216336.2	-	4	514	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	160	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R160*(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCACCTCTCGGAGTGTATCT	0.642																																						uc001wpq.3																			1	Substitution - Nonsense(1)	p.R160*(2)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(478-480)Cga>Tga		Homo sapiens cathepsin G (CTSG), mRNA.							133.0	111.0	118.0					14																	25043567		2203	4300	6503	SO:0001587	stop_gained	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043567G>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.478C>T	14.37:g.25043567G>A	ENSP00000216336:p.Arg160*						p.R160*	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	3	515	-			160			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Nonsense_Mutation	SNP	ENST00000216336.2	37	c.478C>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154746	0.78114	.	.	ENSG00000100448	ENST00000216336	.	.	.	5.14	5.14	0.70334	.	0.946965	0.08631	N	0.916966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	14.8308	0.70146	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000216336:R160X	R	-	1	2	CTSG	24113407	0.999000	0.42202	0.858000	0.33744	0.005000	0.04900	3.788000	0.55446	2.780000	0.95670	0.655000	0.94253	CGA		0.642	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911	
CLMN	79789	broad.mit.edu	37	14	95669370	95669370	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:95669370C>G	ENST00000298912.4	-	9	2429	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	772					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATCGGCCTCCTCCTCCCTGG	0.567																																						uc001yef.2																			0		p.E771K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2314-2316)gaG>gaC		Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.							37.0	38.0	37.0					14																	95669370		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669370C>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2316G>C	14.37:g.95669370C>G	ENSP00000298912:p.Glu772Asp						p.E772D	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	8	2432	-			772					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2316G>C	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870697	0.33069	.	.	ENSG00000165959	ENST00000298912	D	0.92545	-3.06	4.28	0.11	0.14611	.	0.798106	0.10297	N	0.691588	D	0.82549	0.5061	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68720	-0.5334	10	0.34782	T	0.22	.	6.3891	0.21577	0.0:0.3044:0.5562:0.1394	.	772	Q96JQ2	CLMN_HUMAN	D	772	ENSP00000298912:E772D	ENSP00000298912:E772D	E	-	3	2	CLMN	94739123	0.000000	0.05858	0.212000	0.23672	0.546000	0.35178	-0.393000	0.07305	0.120000	0.18254	0.555000	0.69702	GAG		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
HHIPL1	84439	broad.mit.edu	37	14	100118755	100118755	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:100118755C>T	ENST00000330710.5	+	2	548	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HHIPL1_ENST00000357223.2_Silent_p.S150S	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	150					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCTACCTGTCCCTGGATGACA	0.602																																						uc010avs.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(448-450)tcC>tcT		Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.							115.0	99.0	104.0					14																	100118755		2203	4300	6503	SO:0001819	synonymous_variant	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118755C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.450C>T	14.37:g.100118755C>T						HHIPL1_uc001ygl.1_Silent_p.S150S	p.S150S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			1	515	+		Melanoma(154;0.128)	150					A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	c.450C>T	CCDS45162.1																																																																																				0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
ZNF609	23060	broad.mit.edu	37	15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A	rs200890644		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:64966530G>A	ENST00000326648.3	+	4	1605	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	493						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		18089	0.0		0.0	False		,,,				2504	0.001					uc002ann.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1477-1479)Gtc>Atc		Homo sapiens zinc finger protein 609 (ZNF609), mRNA.		G	ILE/VAL	0,4406		0,0,2203	85.0	70.0	75.0		1477	5.6	1.0	15		75	6,8592	5.0+/-18.6	0,6,4293	yes	missense	ZNF609	NM_015042.1	29	0,6,6496	AA,AG,GG		0.0698,0.0,0.0461	benign	493/1412	64966530	6,12998	2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64966530G>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1477G>A	15.37:g.64966530G>A	ENSP00000316527:p.Val493Ile						p.V493I	NM_015042	NP_055857	O15014	ZN609_HUMAN			3	1477	+			493					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.1477G>A	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775434	0.31411	0.0	6.98E-4	ENSG00000180357	ENST00000326648	T	0.53857	0.6	5.61	5.61	0.85477	.	0.108019	0.64402	D	0.000006	T	0.38558	0.1045	L	0.33093	0.98	0.46849	D	0.999221	B	0.10296	0.003	B	0.13407	0.009	T	0.25676	-1.0125	10	0.33940	T	0.23	-11.9829	7.3316	0.26586	0.2008:0.0:0.7992:0.0	.	493	O15014	ZN609_HUMAN	I	493	ENSP00000316527:V493I	ENSP00000316527:V493I	V	+	1	0	ZNF609	62753583	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	4.442000	0.59988	2.638000	0.89438	0.650000	0.86243	GTC		0.522	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
ISLR	3671	broad.mit.edu	37	15	74468444	74468444	+	Silent	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:74468444G>C	ENST00000249842.3	+	2	1602	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.L415L	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	415					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCTCCTGCTGGGCCAAAGCC	0.617																																						uc002axg.1																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(1243-1245)ctG>ctC		Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.							35.0	37.0	36.0					15																	74468444		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74468444G>C	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1245G>C	15.37:g.74468444G>C						ISLR_uc002axh.1_Silent_p.L415L|ISLR_uc021sqf.1_Silent_p.L415L	p.L415L	NM_005545	NP_958934	O14498	ISLR_HUMAN			1	1527	+			415						Silent	SNP	ENST00000249842.3	37	c.1245G>C	CCDS10260.1																																																																																				0.617	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545	
ARNT2	9915	broad.mit.edu	37	15	80845010	80845010	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:80845010G>T	ENST00000303329.4	+	10	1149	c.984G>T	c.(982-984)atG>atT	p.M328I	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Missense_Mutation_p.M317I|ARNT2_ENST00000533983.1_Missense_Mutation_p.M317I	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	328	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.M328I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGACATGAATGGGATGT	0.493																																						uc002bfr.3																			1	Substitution - Missense(1)	p.M328I(2)	lung(1)	NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(982-984)atG>atT		Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.							164.0	137.0	146.0					15																	80845010		2203	4300	6503	SO:0001583	missense	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845010G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.984G>T	15.37:g.80845010G>T	ENSP00000307479:p.Met328Ile					ARNT2_uc010unm.2_Missense_Mutation_p.M317I|ARNT2_uc002bfs.3_Missense_Mutation_p.M317I	p.M328I	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		9	1150	+			328			PAS 2.		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	37	c.984G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310828	0.60414	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.05081	3.5	5.45	5.45	0.79879	PAS (1);	0.113470	0.85682	D	0.000000	T	0.04227	0.0117	N	0.03224	-0.385	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.53330	-0.8454	10	0.31617	T	0.26	.	19.2806	0.94051	0.0:0.0:1.0:0.0	.	328	Q9HBZ2	ARNT2_HUMAN	I	317;328;328	ENSP00000307479:M328I	ENSP00000307479:M328I	M	+	3	0	ARNT2	78632065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.178000	0.77657	2.547000	0.85894	0.467000	0.42956	ATG		0.493	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
C15orf26	161502	broad.mit.edu	37	15	81428924	81428924	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:81428924A>G	ENST00000286732.4	+	3	310	c.227A>G	c.(226-228)gAt>gGt	p.D76G		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	76										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAATCCTGATGATCCTGAC	0.408																																						uc002bgb.3																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						c.(226-228)gAt>gGt		Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.							151.0	153.0	152.0					15																	81428924		2128	4251	6379	SO:0001583	missense	161502							g.chr15:81428924A>G	AK095934	CCDS42068.1	15q25.1	2012-09-10			ENSG00000156206	ENSG00000156206			26782	protein-coding gene	gene with protein product						14702039	Standard	NM_173528		Approved	FLJ38615	uc002bgb.3	Q6P656	OTTHUMG00000172263	ENST00000286732.4:c.227A>G	15.37:g.81428924A>G	ENSP00000286732:p.Asp76Gly					C15orf26_uc010blp.1_Missense_Mutation_p.D51G	p.D76G	NM_173528	NP_775799	Q6P656	CO026_HUMAN			2	254	+			76					Q8N906	Missense_Mutation	SNP	ENST00000286732.4	37	c.227A>G	CCDS42068.1	.	.	.	.	.	.	.	.	.	.	A	0.115	-1.133244	0.01756	.	.	ENSG00000156206	ENST00000286732;ENST00000398681	T	0.45276	0.9	5.31	2.84	0.33178	.	0.540943	0.21465	N	0.074095	T	0.28267	0.0698	L	0.42245	1.32	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.25813	-1.0121	10	0.06891	T	0.86	-11.8828	8.3292	0.32175	0.7754:0.1435:0.0811:0.0	.	76	Q6P656	CO026_HUMAN	G	76;51	ENSP00000286732:D76G	ENSP00000286732:D76G	D	+	2	0	C15orf26	79215979	0.001000	0.12720	0.006000	0.13384	0.005000	0.04900	0.498000	0.22530	0.866000	0.35629	0.528000	0.53228	GAT		0.408	C15orf26-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417587.1	NM_173528	
PAQR4	124222	broad.mit.edu	37	16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T	rs367647268		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:3021597C>T	ENST00000318782.8	+	3	900	c.470C>T	c.(469-471)tCg>tTg	p.S157L	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000574988.1_Missense_Mutation_p.S90L|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.S118L|PAQR4_ENST00000572687.1_Missense_Mutation_p.S83L|PAQR4_ENST00000576565.1_Missense_Mutation_p.S90L	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	157						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTGTGTTGTCGGGTGTGGCC	0.687																																						uc002csj.4																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(469-471)tCg>tTg		Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.		C	LEU/SER	1,4353		0,1,2176	38.0	43.0	42.0		470	4.3	0.0	16		42	0,8552		0,0,4276	no	missense	PAQR4	NM_152341.3	145	0,1,6452	TT,TC,CC		0.0,0.023,0.0077	probably-damaging	157/274	3021597	1,12905	2177	4276	6453	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021597C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.470C>T	16.37:g.3021597C>T	ENSP00000321804:p.Ser157Leu					PAQR4_uc002csk.4_Missense_Mutation_p.S118L|PAQR4_uc002csl.4_Missense_Mutation_p.S83L|PAQR4_uc010uwm.2_Missense_Mutation_p.S88L	p.S157L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			2	804	+			157					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.470C>T	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.178820	0.57692	2.3E-4	0.0	ENSG00000162073	ENST00000318782;ENST00000293978	T	0.21932	1.98	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.34483	0.0899	M	0.66297	2.02	0.80722	D	1	D;P;P	0.62365	0.991;0.939;0.951	P;P;P	0.51895	0.538;0.477;0.683	T	0.25606	-1.0127	10	0.87932	D	0	-9.7868	14.3666	0.66810	0.0:1.0:0.0:0.0	.	82;118;157	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	L	157;83	ENSP00000321804:S157L	ENSP00000293978:S83L	S	+	2	0	PAQR4	2961598	0.917000	0.31117	0.031000	0.17742	0.194000	0.23727	2.385000	0.44371	2.228000	0.72767	0.450000	0.29827	TCG		0.687	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341	
MYH11	4629	broad.mit.edu	37	16	15841499	15841499	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:15841499T>C	ENST00000300036.5	-	19	2448	c.2339A>G	c.(2338-2340)gAg>gGg	p.E780G	MYH11_ENST00000452625.2_Missense_Mutation_p.E787G|MYH11_ENST00000576790.2_Missense_Mutation_p.E780G|MYH11_ENST00000396324.3_Missense_Mutation_p.E787G	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	780	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTCGCTCCTCCTCTAGGTG	0.498			T	CBFB	AML																																	uc002ddx.3				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0		p.I786T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2359-2361)gAg>gGg		Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.							109.0	101.0	104.0					16																	15841499		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841499T>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2339A>G	16.37:g.15841499T>C	ENSP00000300036:p.Glu780Gly					MYH11_uc002ddv.3_Missense_Mutation_p.E787G|MYH11_uc002ddw.3_Missense_Mutation_p.E780G|MYH11_uc002ddy.3_Missense_Mutation_p.E780G|MYH11_uc010bvg.3_Missense_Mutation_p.E612G	p.E787G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN			19	2467	-			780			IQ.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2360A>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589328	0.86851	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.46	5.46	0.80206	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90000	0.4114	10	0.87932	D	0	.	14.7206	0.69302	0.0:0.0:0.0:1.0	.	787;780;787;780;787	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	G	780;780;787;787;787	ENSP00000300036:E780G;ENSP00000345136:E780G;ENSP00000379616:E787G;ENSP00000407821:E787G	ENSP00000300036:E780G	E	-	2	0	MYH11	15749000	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.040000	0.89188	2.075000	0.62263	0.459000	0.35465	GAG		0.498	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
RBBP6	5930	broad.mit.edu	37	16	24582927	24582927	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:24582927A>C	ENST00000319715.4	+	18	4972	c.4540A>C	c.(4540-4542)Aaa>Caa	p.K1514Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.K1480Q|RBBP6_ENST00000381039.3_Missense_Mutation_p.K674Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1514	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACAGAAAAATAAACCAAGGGA	0.368																																						uc002dmh.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4540-4542)Aaa>Caa		Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.							41.0	41.0	41.0					16																	24582927		2196	4297	6493	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582927A>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4540A>C	16.37:g.24582927A>C	ENSP00000317872:p.Lys1514Gln					RBBP6_uc002dmi.3_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.3_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.3_Missense_Mutation_p.K1347Q	p.K1514Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	5580	+			1514			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4540A>C	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016021	0.54468	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.21031	2.03;2.34;2.32	6.03	6.03	0.97812	.	0.147172	0.47093	D	0.000256	T	0.23492	0.0568	L	0.32530	0.975	0.31794	N	0.629324	D;P;P	0.53312	0.959;0.835;0.745	P;P;B	0.48030	0.564;0.466;0.276	T	0.07770	-1.0755	10	0.25751	T	0.34	-14.8675	16.5724	0.84622	1.0:0.0:0.0:0.0	.	674;1480;1514	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	Q	674;1514;1480	ENSP00000370427:K674Q;ENSP00000317872:K1514Q;ENSP00000316291:K1480Q	ENSP00000317872:K1514Q	K	+	1	0	RBBP6	24490428	1.000000	0.71417	0.900000	0.35374	0.894000	0.52154	5.151000	0.64875	2.313000	0.78055	0.455000	0.32223	AAA		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
RNF40	9810	broad.mit.edu	37	16	30774800	30774800	+	Missense_Mutation	SNP	C	C	A	rs199734395		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:30774800C>A	ENST00000324685.6	+	4	797	c.362C>A	c.(361-363)gCg>gAg	p.A121E	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.A121E|RNF40_ENST00000563683.1_Missense_Mutation_p.A121E|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	121					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGTCTTCAGCGCCTGAGGCA	0.562																																						uc002dzq.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(361-363)gCg>gAg		Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.							61.0	62.0	62.0					16																	30774800		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774800C>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.362C>A	16.37:g.30774800C>A	ENSP00000325677:p.Ala121Glu					C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.A121E|RNF40_uc010cab.3_Missense_Mutation_p.A121E|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.A121E	p.A121E	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		3	1182	+			121					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.362C>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.365885	0.01235	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.28255	1.62;1.63	5.84	3.89	0.44902	.	0.263550	0.36338	N	0.002652	T	0.22205	0.0535	L	0.44542	1.39	0.49130	D	0.999757	B;B;B	0.16802	0.019;0.001;0.001	B;B;B	0.17433	0.018;0.001;0.005	T	0.04650	-1.0936	10	0.08179	T	0.78	-44.319	9.7898	0.40699	0.0:0.2928:0.5611:0.1461	.	121;121;121	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	E	121	ENSP00000325677:A121E;ENSP00000350563:A121E	ENSP00000325677:A121E	A	+	2	0	RNF40	30682301	0.032000	0.19561	0.992000	0.48379	0.319000	0.28217	0.804000	0.27098	0.818000	0.34468	-1.274000	0.01402	GCG		0.562	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
ZNF23	7571	broad.mit.edu	37	16	71483233	71483233	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:71483233C>A	ENST00000393539.2	-	6	1508	c.695G>T	c.(694-696)aGc>aTc	p.S232I	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.S232I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.S232I|ZNF23_ENST00000564528.1_Missense_Mutation_p.S174I|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.S174I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTAGCTGAAGCTTTTCCCACA	0.448																																						uc002faf.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(694-696)aGc>aTc		Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.							128.0	121.0	123.0					16																	71483233		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483233C>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.695G>T	16.37:g.71483233C>A	ENSP00000377171:p.Ser232Ile					ZNF23_uc002fah.3_Missense_Mutation_p.S232I|ZNF23_uc002fad.3_Missense_Mutation_p.S174I|ZNF23_uc010vmf.2_Missense_Mutation_p.S174I|ZNF23_uc002fag.3_Missense_Mutation_p.S174I|ZNF23_uc002fai.3_Missense_Mutation_p.S271I	p.S232I	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	5	1509	-		Ovarian(137;0.00768)	232					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.695G>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886518	0.51908	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	3.7	3.7	0.42460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.142158	0.33005	N	0.005394	T	0.33614	0.0869	M	0.83223	2.63	0.24098	N	0.995888	P;P	0.50156	0.932;0.778	P;B	0.49999	0.628;0.314	T	0.28808	-1.0032	10	0.87932	D	0	-4.5484	7.274	0.26273	0.0:0.8829:0.0:0.1171	.	232;232	B3KR55;P17027	.;ZNF23_HUMAN	I	232;232;232;174;174;32	ENSP00000377171:S232I;ENSP00000349796:S232I;ENSP00000395712:S232I;ENSP00000387673:S174I	ENSP00000349796:S232I	S	-	2	0	ZNF23	70040734	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.839000	0.27586	2.371000	0.80710	0.561000	0.74099	AGC		0.448	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
SMARCD2	6603	broad.mit.edu	37	17	61912798	61912798	+	Nonsense_Mutation	SNP	G	G	A	rs367946883		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:61912798G>A	ENST00000448276.2	-	5	962	c.697C>T	c.(697-699)Cga>Tga	p.R233*	SMARCD2_ENST00000225742.9_Nonsense_Mutation_p.R158*|SMARCD2_ENST00000323347.10_Nonsense_Mutation_p.R185*	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	233					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CCTTCCACTCGGAGTTCCCAG	0.572																																						uc010deb.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(697-699)Cga>Tga		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.							58.0	61.0	60.0					17																	61912798		1880	4118	5998	SO:0001587	stop_gained	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61912798G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.697C>T	17.37:g.61912798G>A	ENSP00000392617:p.Arg233*					SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*	p.R233*	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN			4	1014	-			233					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Nonsense_Mutation	SNP	ENST00000448276.2	37	c.697C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.543441	0.65198	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.18	15.8147	0.78592	0.0:0.0:1.0:0.0	.	.	.	.	X	233;175;196;185	.	ENSP00000225742:R175X	R	-	1	2	SMARCD2	59266530	0.999000	0.42202	1.000000	0.80357	0.543000	0.35085	2.708000	0.47152	2.600000	0.87896	0.655000	0.94253	CGA		0.572	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426	
ABCA8	10351	broad.mit.edu	37	17	66928560	66928560	+	Silent	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:66928560A>T	ENST00000269080.2	-	6	803	c.666T>A	c.(664-666)acT>acA	p.T222T	ABCA8_ENST00000586539.1_Silent_p.T222T|ABCA8_ENST00000430352.2_Silent_p.T222T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	222					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTACAAATCAGTTATAACTC	0.363																																						uc002jhq.3																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(664-666)acT>acA		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.							111.0	104.0	106.0					17																	66928560		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928560A>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.666T>A	17.37:g.66928560A>T						ABCA8_uc002jhp.3_Silent_p.T222T|ABCA8_uc010wqq.2_Silent_p.T222T|ABCA8_uc010wqr.2_Silent_p.T161T|ABCA8_uc002jhr.3_Silent_p.T222T|ABCA8_uc002jhs.3_Silent_p.T222T|ABCA8_uc002jht.3_Silent_p.T222T	p.T222T	NM_007168	NP_009099	O94911	ABCA8_HUMAN			6	1006	-	Breast(10;4.56e-13)		222					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.666T>A	CCDS11680.1																																																																																				0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
CD7	924	broad.mit.edu	37	17	80274786	80274786	+	Missense_Mutation	SNP	C	C	A	rs536476554	byFrequency	TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:80274786C>A	ENST00000312648.3	-	2	260	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	CD7_ENST00000584284.1_Missense_Mutation_p.G52W|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	52	Ig-like.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGCAGGCCCCCGCTGGTGGAG	0.647																																					Pancreas(45;804 1068 19702 28207 28798)	uc002kel.1																			0		p.S51S(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(154-156)Ggg>Tgg		Homo sapiens CD7 molecule (CD7), mRNA.							44.0	46.0	45.0					17																	80274786		2203	4300	6503	SO:0001583	missense	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274786C>A	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.154G>T	17.37:g.80274786C>A	ENSP00000312027:p.Gly52Trp					CD7_uc010din.3_Missense_Mutation_p.G52W|CD7_uc010wvk.1_Missense_Mutation_p.G52W	p.G52W	NM_006137	NP_006128	P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		1	263	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		52			Ig-like.			Missense_Mutation	SNP	ENST00000312648.3	37	c.154G>T	CCDS11807.1	.	.	.	.	.	.	.	.	.	.	C	8.473	0.857958	0.17178	.	.	ENSG00000173762	ENST00000312648	T	0.51071	0.72	3.09	0.951	0.19579	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216712	0.23819	N	0.044260	T	0.65554	0.2702	M	0.87456	2.885	0.18873	N	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54255	-0.8321	10	0.87932	D	0	-10.6751	5.0979	0.14742	0.0:0.4503:0.4232:0.1265	.	52;52;52	B4DNW9;Q29VG3;P09564	.;.;CD7_HUMAN	W	52	ENSP00000312027:G52W	ENSP00000312027:G52W	G	-	1	0	CD7	77868075	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.660000	0.05317	0.299000	0.22661	0.313000	0.20887	GGG		0.647	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137	
MUC16	94025	broad.mit.edu	37	19	9015333	9015333	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:9015333C>T	ENST00000397910.4	-	30	38458	c.38255G>A	c.(38254-38256)aGa>aAa	p.R12752K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12754	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGTCAGTCTGCAGCCAGA	0.517																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38254-38256)aGa>aAa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							139.0	118.0	125.0					19																	9015333		1972	4154	6126	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015333C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38255G>A	19.37:g.9015333C>T	ENSP00000381008:p.Arg12752Lys					MUC16_uc021uog.1_5'Flank	p.R12752K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			29	38459	-			12754	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38255G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	8.703	0.910287	0.17833	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	2.82	0.504	0.16946	.	.	.	.	.	T	0.32194	0.0821	M	0.72894	2.215	.	.	.	D	0.64830	0.994	P	0.57620	0.824	T	0.39354	-0.9618	8	0.87932	D	0	.	3.4351	0.07442	0.0:0.5615:0.2754:0.163	.	12752	B5ME49	.	K	12752	ENSP00000381008:R12752K	ENSP00000381008:R12752K	R	-	2	0	MUC16	8876333	0.056000	0.20664	0.149000	0.22428	0.018000	0.09664	0.028000	0.13644	0.452000	0.26830	0.305000	0.20034	AGA		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CYP4F3	4051	broad.mit.edu	37	19	15758065	15758065	+	Silent	SNP	G	G	A	rs138865516		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:15758065G>A	ENST00000221307.8	+	5	503	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F3_ENST00000591058.1_Silent_p.T152T|CYP4F3_ENST00000586182.2_Silent_p.T152T|CYP4F3_ENST00000585846.1_Silent_p.T152T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	152					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGATGCTGACGCCTGCCTTCC	0.552																																						uc010xok.2																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(454-456)acG>acA		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.		G	,,	0,4406		0,0,2203	82.0	87.0	85.0		456,456,456	-2.7	1.0	19	dbSNP_134	85	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	152/521,152/521,152/521	15758065	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15758065G>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.456G>A	19.37:g.15758065G>A						CYP4F3_uc010xol.2_Silent_p.T152T|CYP4F3_uc002nbj.3_Silent_p.T152T|CYP4F3_uc010xom.2_Silent_p.T3T|CYP4F3_uc002nbk.3_Silent_p.T152T|CYP4F3_uc010xon.2_5'Flank	p.T152T	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN			4	506	+			152					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.456G>A	CCDS12332.1																																																																																				0.552	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896	
ZNF493	284443	broad.mit.edu	37	19	21606980	21606980	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:21606980C>T	ENST00000355504.4	+	2	1401	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	ZNF493_ENST00000392288.2_Missense_Mutation_p.H507Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTAGTATACATAAAATAAT	0.328																																						uc002npw.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1519-1521)Cat>Tat		Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.							29.0	33.0	31.0					19																	21606980		2182	4281	6463	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606980C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1135C>T	19.37:g.21606980C>T	ENSP00000347691:p.His379Tyr					ZNF493_uc002npx.3_Missense_Mutation_p.H379Y|ZNF493_uc002npy.3_Missense_Mutation_p.H379Y|ZNF493_uc021urq.1_Missense_Mutation_p.H379Y	p.H507Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN			3	1638	+			379					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1519C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	10.69	1.420068	0.25552	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.86769	-2.17;-2.17	1.05	-0.38	0.12490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94221	0.8145	H	0.96430	3.82	0.19575	N	0.999961	D;D	0.89917	1.0;0.992	D;D	0.97110	1.0;0.969	D	0.85359	0.1106	9	0.87932	D	0	.	6.2278	0.20718	0.0:0.8084:0.0:0.1916	.	379;507	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	507;379	ENSP00000376110:H507Y;ENSP00000347691:H379Y	ENSP00000347691:H379Y	H	+	1	0	ZNF493	21398820	0.872000	0.30054	0.001000	0.08648	0.001000	0.01503	2.398000	0.44486	-0.372000	0.07992	-0.364000	0.07487	CAT		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZSCAN5A	79149	broad.mit.edu	37	19	56733609	56733609	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:56733609C>T	ENST00000587340.1	-	7	1521	c.826G>A	c.(826-828)Gtt>Att	p.V276I	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.V130I|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V276I|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V275I|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.V159I			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	276					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTCCACAACGCAGGCAGAA	0.527																																						uc002qmq.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(826-828)Gtt>Att		Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.							110.0	110.0	110.0					19																	56733609		2203	4298	6501	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733609C>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.826G>A	19.37:g.56733609C>T	ENSP00000467631:p.Val276Ile					ZSCAN5A_uc010ygi.2_Missense_Mutation_p.V159I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V276I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V275I	p.V276I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			4	992	-			276					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.826G>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	7.900	0.734289	0.15574	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06068	3.36;3.35	1.94	-1.24	0.09435	.	.	.	.	.	T	0.03915	0.0110	L	0.31752	0.955	0.09310	N	1	B;B	0.19445	0.036;0.021	B;B	0.12156	0.007;0.004	T	0.48127	-0.9062	9	0.12766	T	0.61	.	5.8157	0.18492	0.0:0.3609:0.0:0.6391	.	159;276	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	I	276;159	ENSP00000375593:V276I;ENSP00000254165:V159I	ENSP00000254165:V159I	V	-	1	0	ZSCAN5A	61425421	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.609000	0.02066	-0.245000	0.09625	0.561000	0.74099	GTT		0.527	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303	
ALLC	55821	broad.mit.edu	37	2	3727521	3727521	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:3727521G>A	ENST00000252505.3	+	5	397	c.235G>A	c.(235-237)Gtt>Att	p.V79I		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	98					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGACGTGGACGTTTCTTACTT	0.532										HNSCC(21;0.051)																												uc010ewt.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(235-237)Gtt>Att		Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.							146.0	153.0	151.0					2																	3727521		2092	4216	6308	SO:0001583	missense	55821						allantoicase activity	g.chr2:3727521G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.235G>A	2.37:g.3727521G>A	ENSP00000252505:p.Val79Ile	HNSCC(21;0.051)					p.V79I	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	4	396	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	98					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.235G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777969	0.31502	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	-1.67	0.08238	Allantoicase domain (1);Galactose-binding domain-like (1);	0.362385	0.33401	N	0.004944	T	0.10809	0.0264	N	0.01576	-0.805	0.09310	N	0.999996	B	0.12630	0.006	B	0.09377	0.004	T	0.16217	-1.0410	9	0.54805	T	0.06	-26.0322	5.3371	0.15963	0.5051:0.2529:0.2419:0.0	.	98	Q8N6M5	ALLC_HUMAN	I	79	.	ENSP00000252505:V79I	V	+	1	0	ALLC	3705396	0.998000	0.40836	0.065000	0.19835	0.573000	0.36030	1.650000	0.37292	-0.418000	0.07450	-0.844000	0.03045	GTT		0.532	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
TGFA	7039	broad.mit.edu	37	2	70680446	70680446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:70680446G>A	ENST00000295400.6	-	5	626	c.379C>T	c.(379-381)Cga>Tga	p.R127*	TGFA_ENST00000418333.2_Nonsense_Mutation_p.R126*|TGFA_ENST00000445399.1_Nonsense_Mutation_p.R126*|TGFA_ENST00000444975.1_Nonsense_Mutation_p.R133*|TGFA_ENST00000450929.1_Nonsense_Mutation_p.R132*|AC017084.1_ENST00000401177.2_RNA	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	127					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CAGTGTTTTCGGACCTGGCAG	0.632																																						uc002sgs.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(379-381)Cga>Tga		Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.							57.0	65.0	63.0					2																	70680446		2203	4300	6503	SO:0001587	stop_gained	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70680446G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.379C>T	2.37:g.70680446G>A	ENSP00000295400:p.Arg127*					TGFA_uc010fdq.3_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.3_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.4_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.3_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.3_Nonsense_Mutation_p.R126*|Mir_548_uc021vjb.1_5'Flank	p.R127*	NM_003236	NP_003227	P01135	TGFA_HUMAN			4	627	-			127					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Nonsense_Mutation	SNP	ENST00000295400.6	37	c.379C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031177	0.93575	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975	.	.	.	5.87	4.89	0.63831	.	0.315058	0.27371	N	0.019665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2039	0.48758	0.0:0.0:0.7116:0.2884	.	.	.	.	X	127;126;126;132;133	.	ENSP00000295400:R127X	R	-	1	2	TGFA	70533954	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.620000	0.36976	2.941000	0.99782	0.655000	0.94253	CGA		0.632	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2		
CNTNAP5	129684	broad.mit.edu	37	2	125660583	125660583	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:125660583G>A	ENST00000431078.1	+	22	3922	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1186	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTGTCGCGCCTGTGACTG	0.537																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3559-3561)gcG>gcA		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							62.0	63.0	63.0					2																	125660583		2133	4257	6390	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125660583G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3558G>A	2.37:g.125660583G>A						CNTNAP5_uc002tno.3_Silent_p.A1186A	p.A1187A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	21	3925	+			1186			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3561G>A	CCDS46401.1																																																																																				0.537	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
TTN	7273	broad.mit.edu	37	2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179438951G>A	ENST00000591111.1	-	276	67209	c.66985C>T	c.(66985-66987)Cgg>Tgg	p.R22329W	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15097W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23970W|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14905W|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21402W|TTN_ENST00000359218.5_Missense_Mutation_p.R15030W			Q8WZ42	TITIN_HUMAN	titin	22329	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413																																						uc021vsy.1																			0		p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(64204-64206)Cgg>Tgg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							64.0	61.0	62.0					2																	179438951		1887	4113	6000	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438951G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66985C>T	2.37:g.179438951G>A	ENSP00000465570:p.Arg22329Trp					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	p.R21402W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	64429	-			22329			Fibronectin type-III 55.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.64204C>T		.	.	.	.	.	.	.	.	.	.	G	10.41	1.343879	0.24339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.66	1.67	0.24075	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77698	0.4169	M	0.92507	3.315	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82699	-0.0328	9	0.87932	D	0	.	15.5028	0.75713	0.0:0.0:0.5284:0.4716	.	14905;15030;15097;22329	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	21402;14905;15097;15030;14903	ENSP00000343764:R21402W;ENSP00000434586:R14905W;ENSP00000340554:R15097W;ENSP00000352154:R15030W	ENSP00000340554:R15097W	R	-	1	2	TTN	179147197	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	5.712000	0.68407	0.025000	0.15241	-0.320000	0.08662	CGG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179569359	179569359	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179569359A>C	ENST00000591111.1	-	103	29113	c.28889T>G	c.(28888-28890)tTt>tGt	p.F9630C	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F9947C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F8703C|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13706					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTATTTCAAATTTATCACT	0.368																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26107-26109)tTt>tGt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							83.0	74.0	77.0					2																	179569359		1844	4092	5936	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569359A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28889T>G	2.37:g.179569359A>C	ENSP00000465570:p.Phe9630Cys					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	p.F8703C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		101	26333	-			9630			Ig-like 70.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.26108T>G		.	.	.	.	.	.	.	.	.	.	a	11.95	1.792279	0.31685	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	5.67	-0.15	0.13416	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65523	0.2699	L	0.48362	1.52	0.80722	D	1	P	0.48764	0.915	P	0.49752	0.621	T	0.68074	-0.5505	9	0.87932	D	0	.	12.7468	0.57285	0.2268:0.0:0.0:0.7732	.	9630	Q8WZ42	TITIN_HUMAN	C	8703	ENSP00000343764:F8703C	ENSP00000343764:F8703C	F	-	2	0	TTN	179277604	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	3.130000	0.50508	0.059000	0.16252	-0.257000	0.10917	TTT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ALPPL2	251	broad.mit.edu	37	2	233272379	233272379	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:233272379T>C	ENST00000295453.3	+	4	428	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	126					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAAGGGCAACTTCCAGACCAT	0.582																																						uc002vss.4																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(376-378)Ttc>Ctc		Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	Amifostine(DB01143)|Levamisole(DB00848)						56.0	49.0	52.0					2																	233272379		2203	4296	6499	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272379T>C	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.376T>C	2.37:g.233272379T>C	ENSP00000295453:p.Phe126Leu						p.F126L	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	429	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	126					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.376T>C	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	t	0.840	-0.742189	0.03088	.	.	ENSG00000163286	ENST00000295453	D	0.95518	-3.73	2.71	1.45	0.22620	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.415167	0.26514	N	0.023957	D	0.87095	0.6092	N	0.14661	0.345	0.24148	N	0.995703	B	0.13594	0.008	B	0.19148	0.024	T	0.73196	-0.4059	10	0.13470	T	0.59	.	7.8757	0.29592	0.1854:0.0:0.0:0.8145	.	126	P10696	PPBN_HUMAN	L	126	ENSP00000295453:F126L	ENSP00000295453:F126L	F	+	1	0	ALPPL2	232980623	0.000000	0.05858	0.070000	0.20053	0.126000	0.20510	-0.152000	0.10159	0.232000	0.21100	0.172000	0.16884	TTC		0.582	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313	
GRIK1	2897	broad.mit.edu	37	21	31023612	31023612	+	Splice_Site	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:31023612C>T	ENST00000399907.1	-	6	1192		c.e6-1		GRIK1_ENST00000399913.1_Splice_Site|GRIK1_ENST00000309434.7_Splice_Site|GRIK1_ENST00000389125.3_Splice_Site|GRIK1_ENST00000399909.1_Splice_Site|GRIK1_ENST00000399914.1_Splice_Site|GRIK1_ENST00000472429.1_Splice_Site|GRIK1_ENST00000535441.1_Splice_Site|GRIK1_ENST00000389124.2_Splice_Site|GRIK1_ENST00000327783.4_Splice_Site	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CAAATAAGTCCTGCATAGTAT	0.353																																						uc002yno.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.e6-1		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						51.0	44.0	47.0					21																	31023612		2203	4300	6503	SO:0001630	splice_region_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023612C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.781-1G>A	21.37:g.31023612C>T						GRIK1_uc002ynn.3_Splice_Site_p.D261_splice|GRIK1_uc011acs.2_Splice_Site_p.D261_splice|GRIK1_uc011act.2_Splice_Site_p.D205_splice|GRIK1_uc010glq.1_Splice_Site_p.D119_splice|GRIK1_uc002ynr.3_Splice_Site_p.D261_splice	p.D261_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN			6	1245	-			261					Q13001|Q86SU9	Splice_Site	SNP	ENST00000399907.1	37	c.781_splice	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612087	0.46631	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.351	0.90338	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIK1	29945483	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	5.561000	0.67339	2.718000	0.92993	0.655000	0.94253	.		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		Intron
CBS	875	broad.mit.edu	37	21	44478273	44478273	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:44478273G>C	ENST00000398165.3	-	15	1708	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	CBS_ENST00000544202.1_Missense_Mutation_p.I395M|CBS_ENST00000359624.3_Missense_Mutation_p.I483M|CBS_ENST00000352178.5_Missense_Mutation_p.I483M|CBS_ENST00000398168.1_Missense_Mutation_p.I483M|CBS_ENST00000398158.1_Missense_Mutation_p.I483M	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	483					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACTGCTTGTAGATGACTTTGC	0.567																																						uc002zcu.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(1447-1449)atC>atG		Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						223.0	158.0	180.0					21																	44478273		2203	4300	6503	SO:0001583	missense	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44478273G>C	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1449C>G	21.37:g.44478273G>C	ENSP00000381231:p.Ile483Met					CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M	p.I483M	NM_000071	NP_001171480	P35520	CBS_HUMAN			14	1694	-			483					B2R993|D3DSK4|Q99425|Q9BWC5	Missense_Mutation	SNP	ENST00000398165.3	37	c.1449C>G	CCDS13693.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.839|0.839|0.839	-0.742598|-0.742598|-0.742598	0.03088|0.03088|0.03088	.|.|.	.|.|.	ENSG00000160200|ENSG00000160200|ENSG00000160200	ENST00000398158;ENST00000398165;ENST00000359624;ENST00000352178;ENST00000398168;ENST00000539520;ENST00000544202|ENST00000451248|ENST00000458223;ENST00000430013	D;D;D;D;D;D|.|.	0.93953|.|.	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32|.|.	4.62|4.62|4.62	3.71|3.71|3.71	0.42584|0.42584|0.42584	.|.|.	0.364502|.|.	0.28742|.|.	N|.|.	0.014285|.|.	T|T|T	0.43875|0.43875|0.43875	0.1267|0.1267|0.1267	N|N|N	0.20685|0.20685|0.20685	0.6|0.6|0.6	0.34871|0.34871|0.34871	D|D|D	0.743629|0.743629|0.743629	B;B;B|.|.	0.15930|.|.	0.005;0.015;0.007|.|.	B;B;B|.|.	0.17722|.|.	0.007;0.019;0.007|.|.	T|T|T	0.52102|0.52102|0.52102	-0.8620|-0.8620|-0.8620	10|5|5	0.02654|.|.	T|.|.	1|.|.	-18.2991|-18.2991|-18.2991	14.1733|14.1733|14.1733	0.65525|0.65525|0.65525	0.0:0.1512:0.8488:0.0|0.0:0.1512:0.8488:0.0|0.0:0.1512:0.8488:0.0	.|.|.	483;483;440|.|.	P35520-2;P35520;B7Z2D6|.|.	.;CBS_HUMAN;.|.|.	M|V|C	483;483;483;483;483;440;395|67|71;137	ENSP00000381225:I483M;ENSP00000381231:I483M;ENSP00000352643:I483M;ENSP00000344460:I483M;ENSP00000381234:I483M;ENSP00000439332:I395M|.|.	ENSP00000344460:I483M|.|.	I|L|S	-|-|-	3|1|2	3|2|0	CBS|CBS|CBS	43351342|43351342|43351342	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.653000|0.653000|0.653000	0.38743|0.38743|0.38743	2.357000|2.357000|2.357000	0.44125|0.44125|0.44125	0.908000|0.908000|0.908000	0.36671|0.36671|0.36671	0.467000|0.467000|0.467000	0.42956|0.42956|0.42956	ATC|CTA|TCT		0.567	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071	
CRELD1	78987	broad.mit.edu	37	3	9982660	9982660	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:9982660G>A	ENST00000383811.3	+	5	1186	c.587G>A	c.(586-588)gGc>gAc	p.G196D	CRELD1_ENST00000452070.1_Missense_Mutation_p.G196D|CRELD1_ENST00000326434.5_Missense_Mutation_p.G196D|CRELD1_ENST00000397170.3_Missense_Mutation_p.G196D	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	196					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGCCAGTGTGGCCTTGGCTAC	0.642																																						uc003buf.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(586-588)gGc>gAc		Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.							65.0	66.0	66.0					3																	9982660		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982660G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.587G>A	3.37:g.9982660G>A	ENSP00000373322:p.Gly196Asp					CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G196D|CRELD1_uc003bug.3_Missense_Mutation_p.G196D	p.G196D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN			5	686	+			196					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.587G>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989785	0.54041	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.33	5.33	0.75918	EGF-like, laminin (1);Growth factor, receptor (1);	0.186419	0.44483	D	0.000441	D	0.85270	0.5658	N	0.12746	0.255	0.39651	D	0.970468	D;D	0.76494	0.999;0.992	D;P	0.66716	0.946;0.74	D	0.84618	0.0682	9	.	.	.	.	12.2813	0.54765	0.0:0.1709:0.829:0.0	.	196;196	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	D	196	ENSP00000380355:G196D;ENSP00000373322:G196D;ENSP00000393643:G196D;ENSP00000321856:G196D	.	G	+	2	0	CRELD1	9957660	0.998000	0.40836	0.981000	0.43875	0.980000	0.70556	2.665000	0.46791	2.497000	0.84241	0.561000	0.74099	GGC		0.642	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513	
PLS1	5357	broad.mit.edu	37	3	142383125	142383125	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:142383125C>G	ENST00000337777.3	+	2	259	c.46C>G	c.(46-48)Cta>Gta	p.L16V	PLS1_ENST00000457734.2_Missense_Mutation_p.L16V|PLS1_ENST00000497002.1_Missense_Mutation_p.L16V	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	16	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCTTGAAGAACTACAAGAGGC	0.333																																						uc010huv.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(46-48)Cta>Gta		Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.							81.0	84.0	83.0					3																	142383125		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142383125C>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.46C>G	3.37:g.142383125C>G	ENSP00000336831:p.Leu16Val					PLS1_uc003euz.3_Missense_Mutation_p.L16V|PLS1_uc003eva.3_Missense_Mutation_p.L16V	p.L16V	NM_001145319	NP_002661	Q14651	PLSI_HUMAN			1	205	+			16			EF-hand 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.46C>G	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194928	0.58017	.	.	ENSG00000120756	ENST00000457734;ENST00000483373;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T;T	0.77877	-1.13;2.58;-1.13;-0.29;-0.29;-1.13;-1.13;-0.29;-1.13	5.44	3.67	0.42095	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.85099	2.735	0.58432	D	0.999996	D	0.69078	0.997	D	0.85130	0.997	D	0.87829	0.2643	10	0.87932	D	0	-7.287	10.3699	0.44046	0.0:0.789:0.0:0.211	.	16	Q14651	PLSI_HUMAN	V	16	ENSP00000387890:L16V;ENSP00000419893:L16V;ENSP00000417311:L16V;ENSP00000419531:L16V;ENSP00000419271:L16V;ENSP00000418880:L16V;ENSP00000336831:L16V;ENSP00000417491:L16V;ENSP00000418700:L16V	ENSP00000336831:L16V	L	+	1	2	PLS1	143865815	0.987000	0.35691	0.778000	0.31720	0.974000	0.67602	2.566000	0.45948	0.827000	0.34685	-0.232000	0.12228	CTA		0.333	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	
GHSR	2693	broad.mit.edu	37	3	172165997	172165997	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:172165997C>T	ENST00000241256.2	-	1	249	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_ENST00000427970.1_Silent_p.S69S	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	69					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.S69S(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			2	Substitution - coding silent(2)	p.S69S(3)|p.S69T(1)	lung(2)	biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(205-207)tcG>tcA		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							69.0	59.0	62.0					3																	172165997		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165997C>T	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.207G>A	3.37:g.172165997C>T						GHSR_uc011bpv.2_Silent_p.S69S	p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	250	-	Ovarian(172;0.00143)|Breast(254;0.197)		69					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.207G>A	CCDS3218.1																																																																																				0.657	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
FRYL	285527	broad.mit.edu	37	4	48503638	48503638	+	Splice_Site	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48503638A>C	ENST00000503238.1	-	59	8592		c.e59+1		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAATATTTACCTCTGCTTC	0.294																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e62+1		Homo sapiens FRY-like (FRYL), mRNA.							171.0	158.0	162.0					4																	48503638		1804	4071	5875	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503638A>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8592+1T>G	4.37:g.48503638A>C						FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	p.E2864_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			62	9197	-			2864					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.8592_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.319553	0.81469	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8152	0.78595	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48198395	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.629000	0.90983	2.196000	0.70406	0.397000	0.26171	.		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron
FRYL	285527	broad.mit.edu	37	4	48537846	48537846	+	Splice_Site	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48537846T>C	ENST00000503238.1	-	45	6393		c.e45-2		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000507873.2_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCACAAACCTAGAAAACAAA	0.318																																						uc003gyh.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e48-1		Homo sapiens FRY-like (FRYL), mRNA.							73.0	71.0	72.0					4																	48537846		1846	4096	5942	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48537846T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6394-2A>G	4.37:g.48537846T>C						FRYL_uc003gyg.1_Splice_Site_p.V828_splice|FRYL_uc003gyi.1_Splice_Site_p.V1020_splice|FRYL_uc003gyj.1_Splice_Site_p.V427_splice	p.V2132_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN			48	6999	-			2132					O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37	c.6394_splice	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157659	0.57368	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48232603	1.000000	0.71417	0.830000	0.32933	0.666000	0.39218	5.461000	0.66699	2.288000	0.76882	0.482000	0.46254	.		0.318	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron
NPY5R	4889	broad.mit.edu	37	4	164272650	164272650	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:164272650A>G	ENST00000515560.1	+	4	2747	c.1225A>G	c.(1225-1227)Att>Gtt	p.I409V	NPY5R_ENST00000338566.3_Missense_Mutation_p.I409V|NPY5R_ENST00000506953.1_Missense_Mutation_p.I409V			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	409					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTGTATTGCATTTGTCATTT	0.348																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1225-1227)Att>Gtt		Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.							155.0	150.0	152.0					4																	164272650		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272650A>G	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1225A>G	4.37:g.164272650A>G	ENSP00000423917:p.Ile409Val					NPY5R_uc021xtw.1_Missense_Mutation_p.I409V	p.I409V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			3	1407	+	all_hematologic(180;0.166)	Prostate(90;0.109)	409					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1225A>G	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.492013	0.26774	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.54479	0.57;0.57;0.57	4.84	0.743	0.18347	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.33644	0.0870	L	0.36672	1.1	0.32881	D	0.510589	B	0.24426	0.103	B	0.22152	0.038	T	0.28713	-1.0035	10	0.14656	T	0.56	.	6.2659	0.20925	0.7157:0.1341:0.1502:0.0	.	409	Q15761	NPY5R_HUMAN	V	409	ENSP00000339377:I409V;ENSP00000423917:I409V;ENSP00000423474:I409V	ENSP00000339377:I409V	I	+	1	0	NPY5R	164492100	0.998000	0.40836	0.975000	0.42487	0.989000	0.77384	2.208000	0.42797	0.303000	0.22785	0.377000	0.23210	ATT		0.348	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
TRIML1	339976	broad.mit.edu	37	4	189065255	189065255	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:189065255C>T	ENST00000332517.3	+	5	964	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	275	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGCCGCATCACGGGAATGAAG	0.527																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0		p.T275T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(823-825)aCg>aTg		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							67.0	70.0	69.0					4																	189065255		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065255C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.824C>T	4.37:g.189065255C>T	ENSP00000327738:p.Thr275Met					TRIML1_uc003izn.1_5'UTR	p.T275M	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	4	939	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	275			B30.2/SPRY.		Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.824C>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	c	12.93	2.086924	0.36855	.	.	ENSG00000184108	ENST00000332517	T	0.09538	2.97	5.29	5.29	0.74685	B30.2/SPRY domain (1);	0.400974	0.21823	N	0.068586	T	0.29684	0.0741	L	0.58925	1.835	0.41117	D	0.985788	D	0.89917	1.0	D	0.85130	0.997	T	0.00189	-1.1938	10	0.72032	D	0.01	-11.9021	14.6604	0.68868	0.0:1.0:0.0:0.0	.	275	Q8N9V2	TRIML_HUMAN	M	275	ENSP00000327738:T275M	ENSP00000327738:T275M	T	+	2	0	TRIML1	189302249	0.970000	0.33590	0.997000	0.53966	0.047000	0.14425	2.098000	0.41757	2.928000	0.99379	0.639000	0.83563	ACG		0.527	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
CTNND2	1501	broad.mit.edu	37	5	11082954	11082954	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:11082954G>A	ENST00000304623.8	-	16	2831	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	CTNND2_ENST00000511377.1_Missense_Mutation_p.S790L|CTNND2_ENST00000503622.1_Missense_Mutation_p.S544L|CTNND2_ENST00000458100.2_Missense_Mutation_p.S448L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.S823L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	881					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATATATACTGACCACTGCAA	0.537																																						uc003jfa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2641-2643)tCa>tTa		Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.							57.0	53.0	54.0					5																	11082954		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082954G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2642C>T	5.37:g.11082954G>A	ENSP00000307134:p.Ser881Leu					CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	p.S881L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			15	2787	-			881					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2642C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184831	0.94885	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.66781	0.2824	M	0.78049	2.395	0.80722	D	1	D;D;D	0.60160	0.981;0.981;0.987	D;D;D	0.69824	0.966;0.966;0.942	T	0.71533	-0.4564	10	0.87932	D	0	-0.8443	18.7094	0.91651	0.0:0.0:1.0:0.0	.	544;473;881	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	881;823;790;448;544	ENSP00000307134:S881L;ENSP00000352661:S823L;ENSP00000426510:S790L;ENSP00000391155:S448L;ENSP00000426887:S544L	ENSP00000307134:S881L	S	-	2	0	CTNND2	11135954	1.000000	0.71417	0.985000	0.45067	0.968000	0.65278	9.753000	0.98904	2.496000	0.84212	0.563000	0.77884	TCA		0.537	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
AP3B1	8546	broad.mit.edu	37	5	77311333	77311333	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:77311333A>G	ENST00000255194.6	-	26	3207	c.3032T>C	c.(3031-3033)aTt>aCt	p.I1011T	AP3B1_ENST00000519295.1_Missense_Mutation_p.I962T	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1011					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGGTGCAGCAATGATTACAGC	0.383									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3031-3033)aTt>aCt		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							106.0	107.0	107.0					5																	77311333		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311333A>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3032T>C	5.37:g.77311333A>G	ENSP00000255194:p.Ile1011Thr						p.I1011T	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	25	3157	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1011					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3032T>C	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	A	0.461	-0.889142	0.02511	.	.	ENSG00000132842	ENST00000255194;ENST00000519295	T;T	0.51817	0.69;0.69	5.47	3.13	0.36017	.	0.548660	0.20455	N	0.092003	T	0.14570	0.0352	N	0.01482	-0.84	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.21655	-1.0239	10	0.09084	T	0.74	-4.2256	2.8757	0.05630	0.469:0.0:0.3445:0.1865	.	1011	O00203	AP3B1_HUMAN	T	1011;962	ENSP00000255194:I1011T;ENSP00000430597:I962T	ENSP00000255194:I1011T	I	-	2	0	AP3B1	77347089	1.000000	0.71417	0.002000	0.10522	0.600000	0.36913	3.869000	0.56062	0.926000	0.37118	0.533000	0.62120	ATT		0.383	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
GPR150	285601	broad.mit.edu	37	5	94956705	94956705	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:94956705C>T	ENST00000380007.2	+	1	924	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGGGCTTCGTCGCGCCTGTTA	0.751																																						uc003kle.1																			0				lung(2)	2						c.(724-726)gtC>gtT		Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.							7.0	8.0	8.0					5																	94956705		2030	4046	6076	SO:0001819	synonymous_variant	285601					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:94956705C>T	BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.726C>T	5.37:g.94956705C>T							p.V242V	NM_199243	NP_954713	Q8NGU9	GP150_HUMAN		all cancers(79;1.82e-16)	0	726	+		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)	242						Silent	SNP	ENST00000380007.2	37	c.726C>T	CCDS4074.1																																																																																				0.751	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241657.2		
PPIC	5480	broad.mit.edu	37	5	122359634	122359634	+	Missense_Mutation	SNP	G	G	A	rs371579770		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:122359634G>A	ENST00000306442.4	-	5	690	c.575C>T	c.(574-576)tCg>tTg	p.S192L	RN7SL689P_ENST00000577215.1_RNA	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	192	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTTGATGATCGAGCAGTTGGT	0.478																																					Ovarian(99;690 1502 20765 45543 49568)	uc003kth.3																			0		p.S192S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(574-576)tCg>tTg		Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	L-Proline(DB00172)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	273.0	244.0	254.0		575	2.9	1.0	5		254	0,8600		0,0,4300	no	missense	PPIC	NM_000943.4	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	192/213	122359634	1,13005	2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122359634G>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.575C>T	5.37:g.122359634G>A	ENSP00000303057:p.Ser192Leu						p.S192L	NM_000943	NP_000934	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	4	680	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	192			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.575C>T	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150408	0.37923	2.27E-4	0.0	ENSG00000168938	ENST00000306442	T	0.21191	2.02	5.93	2.86	0.33363	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.926243	0.09180	N	0.837558	T	0.08670	0.0215	N	0.02751	-0.505	0.24316	N	0.995063	B	0.26902	0.163	B	0.26202	0.067	T	0.26467	-1.0102	10	0.51188	T	0.08	.	3.4309	0.07428	0.3804:0.3082:0.3115:0.0	.	192	P45877	PPIC_HUMAN	L	192	ENSP00000303057:S192L	ENSP00000303057:S192L	S	-	2	0	PPIC	122387533	1.000000	0.71417	0.962000	0.40283	0.564000	0.35744	2.754000	0.47532	0.851000	0.35264	-0.126000	0.14955	TCG		0.478	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943	
SLC12A2	6558	broad.mit.edu	37	5	127520072	127520072	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:127520072A>G	ENST00000262461.2	+	25	3503	c.3314A>G	c.(3313-3315)gAg>gGg	p.E1105G	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E1089G|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1105					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATAGCTTTTGAGGAAATCATT	0.289																																						uc003kus.3																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3313-3315)gAg>gGg		Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						89.0	92.0	91.0					5																	127520072		2202	4299	6501	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127520072A>G		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3314A>G	5.37:g.127520072A>G	ENSP00000262461:p.Glu1105Gly					SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.E1089G	p.E1105G	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	24	3478	+		all_cancers(142;0.0972)|Prostate(80;0.151)	1105					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.3314A>G	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087225	0.55968	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86230	-2.08;-2.09	5.33	5.33	0.75918	.	0.230912	0.44902	D	0.000418	D	0.89230	0.6656	M	0.86953	2.85	0.48975	D	0.999739	B;B	0.25521	0.128;0.079	B;B	0.26310	0.068;0.031	D	0.88474	0.3064	10	0.72032	D	0.01	.	15.4569	0.75321	1.0:0.0:0.0:0.0	.	1089;1105	P55011-3;P55011	.;S12A2_HUMAN	G	1105;1089	ENSP00000262461:E1105G;ENSP00000340878:E1089G	ENSP00000262461:E1105G	E	+	2	0	SLC12A2	127547971	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.858000	0.75461	2.229000	0.72834	0.528000	0.53228	GAG		0.289	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
PCDHA13	56136	broad.mit.edu	37	5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:140263877C>T	ENST00000289272.2	+	1	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A675V|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	675	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A675V(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			1	Substitution - Missense(1)	p.A675V(1)	ovary(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2023-2025)gCg>gTg		Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.							54.0	51.0	52.0					5																	140263877		2202	4300	6502	SO:0001583	missense	56136				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140263877C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2024C>T	5.37:g.140263877C>T	ENSP00000289272:p.Ala675Val					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A675V|PCDHAC2_uc003lid.3_Missense_Mutation_p.A675V	p.A675V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2024	+			688			Cadherin 6.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.2024C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874618	0.17395	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.51071	0.72;0.78	4.08	1.24	0.21308	Cadherin (2);	.	.	.	.	T	0.42449	0.1203	M	0.71871	2.18	0.09310	N	1	B;B;B	0.27192	0.001;0.008;0.171	B;B;B	0.20577	0.001;0.002;0.03	T	0.27502	-1.0072	9	0.28530	T	0.3	.	8.3443	0.32263	0.1291:0.7112:0.0:0.1597	.	675;675;675	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	675	ENSP00000386821:A675V;ENSP00000289272:A675V	ENSP00000289272:A675V	A	+	2	0	PCDHA13	140244061	0.055000	0.20627	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	0.063000	0.16370	-0.808000	0.03180	GCG		0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1948-1950)tCg>tTg		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	72.0	79.0					5																	149503887		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503887G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1949C>T	5.37:g.149503887G>A	ENSP00000261799:p.Ser650Leu					PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	p.S650L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2418	-		all_hematologic(541;0.224)	650			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1949C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590431	0.96590	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83591	-1.74	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000363	D	0.89273	0.6668	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90297	0.4327	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	650;650	A8KAM8;P09619	.;PGFRB_HUMAN	L	650;320	ENSP00000261799:S650L	ENSP00000261799:S650L	S	-	2	0	PDGFRB	149484080	1.000000	0.71417	0.968000	0.41197	0.953000	0.61014	7.876000	0.87215	2.397000	0.81536	0.462000	0.41574	TCG		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
GABRG2	2566	broad.mit.edu	37	5	161520964	161520964	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:161520964A>G	ENST00000361925.4	+	2	458	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	GABRG2_ENST00000414552.2_Missense_Mutation_p.K80E|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000356592.3_Missense_Mutation_p.K80E			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	80					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATATGACAATAAACTTCGGCC	0.373																																						uc010jjc.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(238-240)Aaa>Gaa		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.							155.0	150.0	151.0					5																	161520964		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161520964A>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.238A>G	5.37:g.161520964A>G	ENSP00000354651:p.Lys80Glu					GABRG2_uc003lyy.4_Missense_Mutation_p.K80E|GABRG2_uc003lyz.4_Missense_Mutation_p.K80E|GABRG2_uc011dej.2_5'UTR	p.K80E	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	80					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.238A>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206608	0.95033	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.79033	-1.23;-1.23;-1.23	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.68952	2.095	0.80722	D	1	D;D;D	0.58268	0.982;0.976;0.97	P;P;P	0.58577	0.841;0.817;0.814	D	0.86778	0.1977	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	80;80;80	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	E	80	ENSP00000349000:K80E;ENSP00000410732:K80E;ENSP00000354651:K80E	ENSP00000349000:K80E	K	+	1	0	GABRG2	161453542	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.850000	0.92190	2.225000	0.72522	0.460000	0.39030	AAA		0.373	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GRM6	2916	broad.mit.edu	37	5	178415969	178415969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:178415969G>A	ENST00000517717.1	-	7	1359	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	GRM6_ENST00000231188.5_Missense_Mutation_p.L441F|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	441					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TACTGCAGAAGCATCCGCCCA	0.642																																						uc003mjr.3																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1321-1323)Ctt>Ttt		Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.							63.0	60.0	61.0					5																	178415969		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178415969G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1321C>T	5.37:g.178415969G>A	ENSP00000430767:p.Leu441Phe					GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	p.L441F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1500	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	441						Missense_Mutation	SNP	ENST00000517717.1	37	c.1321C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221249	0.58560	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90620	-2.7;-2.7	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.93756	0.8004	M	0.67517	2.055	0.53005	D	0.999965	D;P	0.89917	1.0;0.92	D;P	0.87578	0.998;0.801	D	0.92913	0.6349	9	0.41790	T	0.15	.	11.798	0.52110	0.0856:0.0:0.9144:0.0	.	481;441	E7EX65;O15303	.;GRM6_HUMAN	F	481;441;441	ENSP00000231188:L441F;ENSP00000430767:L441F	ENSP00000231188:L441F	L	-	1	0	GRM6	178348575	1.000000	0.71417	0.876000	0.34364	0.313000	0.28021	4.689000	0.61723	1.373000	0.46208	0.555000	0.69702	CTT		0.642	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
ZNF184	7738	broad.mit.edu	37	6	27420960	27420960	+	Silent	SNP	T	T	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:27420960T>G	ENST00000211936.6	-	6	662	c.378A>C	c.(376-378)atA>atC	p.I126I	ZNF184_ENST00000377419.1_Silent_p.I126I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTTCCACTATTACCTCTG	0.413																																						uc003njj.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(376-378)atA>atC		Homo sapiens zinc finger protein 184 (ZNF184), mRNA.							95.0	97.0	96.0					6																	27420960		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420960T>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.378A>C	6.37:g.27420960T>G						ZNF184_uc010jqv.3_Silent_p.I126I|ZNF184_uc003nji.3_Silent_p.I126I	p.I126I	NM_007149	NP_009080	Q99676	ZN184_HUMAN			4	1189	-			126					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.378A>C	CCDS4624.1																																																																																				0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
OR2H1	26716	broad.mit.edu	37	6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:29430405G>A	ENST00000377136.1	+	4	1324	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_ENST00000377132.1_Missense_Mutation_p.V287I|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.V287I|OR2H1_ENST00000377133.1_Missense_Mutation_p.V287I|OR2H1_ENST00000442615.1_Missense_Mutation_p.V287I			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493																																						uc003nmi.3																			0				large_intestine(5)|lung(12)	17						c.(859-861)Gta>Ata		Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.							79.0	81.0	81.0					6																	29430405		1510	2708	4218	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29430405G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.859G>A	6.37:g.29430405G>A	ENSP00000366340:p.Val287Ile					OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			2	1302	+			287					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.859G>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	1.059	-0.673561	0.03403	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	3.17	0.772	0.18510	GPCR, rhodopsin-like superfamily (1);	0.153166	0.30302	N	0.009934	T	0.01489	0.0048	N	0.01197	-0.965	0.24854	N	0.992386	B	0.09022	0.002	B	0.04013	0.001	T	0.46317	-0.9200	10	0.02654	T	1	.	7.3935	0.26923	0.7976:0.0:0.2024:0.0	.	287	Q9GZK4	OR2H1_HUMAN	I	287	ENSP00000366340:V287I;ENSP00000366337:V287I;ENSP00000393254:V287I;ENSP00000366336:V287I;ENSP00000380010:V287I	ENSP00000366336:V287I	V	+	1	0	OR2H1	29538384	0.998000	0.40836	0.767000	0.31495	0.747000	0.42532	3.997000	0.57016	0.149000	0.19098	-0.368000	0.07277	GTA		0.493	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
SUN3	256979	broad.mit.edu	37	7	48035742	48035742	+	Splice_Site	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:48035742T>A	ENST00000297325.4	-	7	738	c.579A>T	c.(577-579)ggA>ggT	p.G193G	SUN3_ENST00000453192.2_Splice_Site_p.G181G|SUN3_ENST00000412142.1_Splice_Site_p.G93G|SUN3_ENST00000395572.2_Splice_Site_p.G193G|SUN3_ENST00000473723.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	193	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.					integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGGAGGCTCCTAAAATTA	0.313																																						uc003tof.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e8-1		Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.							53.0	56.0	55.0					7																	48035742		2201	4289	6490	SO:0001630	splice_region_variant	256979					integral to membrane		g.chr7:48035742T>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.578-1A>T	7.37:g.48035742T>A						SUN3_uc010kyq.3_Splice_Site_p.G93_splice|SUN3_uc003tog.3_Splice_Site_p.G193_splice|SUN3_uc011kcf.2_Splice_Site_p.G181_splice	p.G193_splice	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			8	675	-			193			SUN.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.578_splice	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536736	0.27475	.	.	ENSG00000164744	ENST00000453071	.	.	.	5.25	-1.09	0.09904	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	3.3705	0.07219	0.3072:0.1979:0.0:0.4949	.	.	.	.	V	117	.	.	E	-	2	0	SUN3	48002267	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	0.392000	0.20801	0.005000	0.14708	0.529000	0.55759	GAG		0.313	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	Silent
ADAM22	53616	broad.mit.edu	37	7	87704970	87704970	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:87704970G>A	ENST00000265727.7	+	4	432	c.353G>A	c.(352-354)aGa>aAa	p.R118K	ADAM22_ENST00000398201.4_Missense_Mutation_p.R118K|ADAM22_ENST00000398209.3_Missense_Mutation_p.R118K|ADAM22_ENST00000439864.1_Missense_Mutation_p.R118K|ADAM22_ENST00000315984.7_Missense_Mutation_p.R118K|ADAM22_ENST00000398204.4_Missense_Mutation_p.R118K			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	118					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TACATAGAGAGACACATTGAA	0.338																																						uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(352-354)aGa>aAa		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							161.0	141.0	148.0					7																	87704970		1857	4107	5964	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87704970G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.353G>A	7.37:g.87704970G>A	ENSP00000265727:p.Arg118Lys					ADAM22_uc003uji.2_Missense_Mutation_p.R117K|ADAM22_uc003ujj.2_Missense_Mutation_p.R118K|ADAM22_uc003ujk.2_Missense_Mutation_p.R118K|ADAM22_uc003ujl.2_Missense_Mutation_p.R118K|ADAM22_uc003ujm.3_Missense_Mutation_p.R118K|ADAM22_uc003ujo.3_Missense_Mutation_p.R118K|ADAM22_uc003ujp.1_Missense_Mutation_p.R170K	p.R118K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	568	+	Esophageal squamous(14;0.00202)		118					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.353G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955262	0.53293	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	5.24	5.24	0.73138	Peptidase M12B, propeptide (1);	0.054197	0.64402	D	0.000001	T	0.16471	0.0396	L	0.47016	1.485	0.52501	D	0.999957	D;P;P;P;D;D	0.71674	0.996;0.835;0.78;0.812;0.995;0.998	D;P;P;P;P;D	0.76071	0.972;0.693;0.676;0.529;0.901;0.987	T	0.09185	-1.0686	10	0.09590	T	0.72	.	16.0974	0.81135	0.0:0.0:1.0:0.0	.	170;118;118;118;118;118	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	K	118;118;135;118;118;118;118;85	ENSP00000381262:R118K;ENSP00000391334:R118K;ENSP00000413899:R135K;ENSP00000381260:R118K;ENSP00000265727:R118K;ENSP00000315900:R118K;ENSP00000381267:R118K;ENSP00000381261:R85K	ENSP00000265727:R118K	R	+	2	0	ADAM22	87542906	1.000000	0.71417	0.995000	0.50966	0.821000	0.46438	5.585000	0.67497	2.601000	0.87937	0.655000	0.94253	AGA		0.338	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
SAMD9L	219285	broad.mit.edu	37	7	92764397	92764397	+	Missense_Mutation	SNP	G	G	T	rs553222606		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:92764397G>T	ENST00000318238.4	-	5	2104	c.888C>A	c.(886-888)aaC>aaA	p.N296K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N296K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N296K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	296					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGGTGTATTGTTCTGCAGAA	0.338																																						uc003umh.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(886-888)aaC>aaA		Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.							98.0	103.0	102.0					7																	92764397		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92764397G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.888C>A	7.37:g.92764397G>T	ENSP00000326247:p.Asn296Lys					SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc022ahh.1_Missense_Mutation_p.N296K	p.N296K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		4	2104	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		296					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.888C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447146	0.25987	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13538	2.58;2.58;2.58	4.95	2.04	0.26737	.	0.147481	0.41194	D	0.000932	T	0.12518	0.0304	M	0.61703	1.905	0.24200	N	0.995511	P	0.38597	0.639	B	0.36959	0.237	T	0.12372	-1.0550	10	0.33940	T	0.23	-19.8391	5.7803	0.18301	0.3045:0.1334:0.5621:0.0	.	296	Q8IVG5	SAM9L_HUMAN	K	296	ENSP00000326247:N296K;ENSP00000405760:N296K;ENSP00000408796:N296K	ENSP00000326247:N296K	N	-	3	2	SAMD9L	92602333	0.000000	0.05858	0.663000	0.29738	0.382000	0.30200	-0.903000	0.04084	0.653000	0.30826	0.460000	0.39030	AAC		0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
AZGP1	563	broad.mit.edu	37	7	99564649	99564649	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:99564649C>G	ENST00000292401.4	-	4	1010	c.874G>C	c.(874-876)Gtg>Ctg	p.V292L	AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	292	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGGGCACCACGAGGGGCTGG	0.637																																						uc003ush.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(874-876)Gtg>Ctg		Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.							77.0	75.0	75.0					7																	99564649		2193	4282	6475	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564649C>G	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.874G>C	7.37:g.99564649C>G	ENSP00000292401:p.Val292Leu						p.V292L	NM_001185	NP_001176	P25311	ZA2G_HUMAN			3	966	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		292			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.874G>C	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343187	0.41498	.	.	ENSG00000160862	ENST00000292401	T	0.13901	2.55	2.16	-4.32	0.03688	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.170240	0.01359	N	0.012167	T	0.10337	0.0253	L	0.31845	0.965	0.20764	N	0.999857	B	0.18968	0.032	B	0.19391	0.025	T	0.30416	-0.9979	10	0.87932	D	0	.	2.6649	0.05041	0.3866:0.1454:0.0:0.468	.	292	P25311	ZA2G_HUMAN	L	292	ENSP00000292401:V292L	ENSP00000292401:V292L	V	-	1	0	AZGP1	99402585	0.000000	0.05858	0.014000	0.15608	0.334000	0.28698	-2.299000	0.01139	-1.209000	0.02631	0.305000	0.20034	GTG		0.637	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
TRPV6	55503	broad.mit.edu	37	7	142572331	142572331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:142572331delG	ENST00000359396.3	-	11	1610	c.1365delC	c.(1363-1365)tccfs	p.S455fs	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	455					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGAGTGCAAAGGACATGGGTA	0.592																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1363-1365)tccfs		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							111.0	95.0	101.0					7																	142572331		2203	4300	6503	SO:0001589	frameshift_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572331delG	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1365delC	7.37:g.142572331delG	ENSP00000352358:p.Ser455fs					TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	p.S455fs	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			10	1594	-	Melanoma(164;0.059)		455					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Frame_Shift_Del	DEL	ENST00000359396.3	37	c.1365delC	CCDS5874.1																																																																																				0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
ARHGEF10	9639	broad.mit.edu	37	8	1808147	1808147	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:1808147C>T	ENST00000398564.1	+	4	350	c.350C>T	c.(349-351)tCt>tTt	p.S117F	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.S117F|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S93F|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S93F|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S117F|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.S117F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	117					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AACCCATATTCTGTCATCGAC	0.597																																						uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(277-279)tCt>tTt		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							147.0	132.0	137.0					8																	1808147		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1808147C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.350C>T	8.37:g.1808147C>T	ENSP00000381571:p.Ser117Phe					ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.3_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.S7F	p.S93F	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	3	456	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	117					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.278C>T		.	.	.	.	.	.	.	.	.	.	C	17.40	3.379791	0.61845	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.78246	-0.31;-0.86;-0.34;-1.16;-0.34;-0.4	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.87220	0.6123	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.998;0.998	D	0.88044	0.2783	10	0.87932	D	0	-9.6241	18.9134	0.92494	0.0:1.0:0.0:0.0	.	117;117;117;93;93	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	F	93;93;117;117;117;117	ENSP00000340297:S93F;ENSP00000427909:S93F;ENSP00000431012:S117F;ENSP00000381568:S117F;ENSP00000381571:S117F;ENSP00000262112:S117F	ENSP00000262112:S117F	S	+	2	0	ARHGEF10	1795554	1.000000	0.71417	0.925000	0.36789	0.011000	0.07611	6.709000	0.74665	2.570000	0.86706	0.650000	0.86243	TCT		0.597	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CHD7	55636	broad.mit.edu	37	8	61769309	61769309	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:61769309G>A	ENST00000423902.2	+	34	7949	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2490					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483																																						uc003xue.3																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7468-7470)tcG>tcA		Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.							149.0	146.0	147.0					8																	61769309		1950	4151	6101	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769309G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7470G>A	8.37:g.61769309G>A						CHD7_uc022aux.1_Intron	p.S2490S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		33	7962	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2490					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.7470G>A	CCDS47865.1																																																																																				0.483	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Splice_Site	SNP	C	C	T	rs201463505		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:69621313C>T	ENST00000539993.1	+	9	1617	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	C8orf34_ENST00000325233.3_Splice_Site_p.F100F|C8orf34_ENST00000518698.1_Splice_Site_p.F442F|C8orf34_ENST00000337103.4_Splice_Site_p.F331F			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	356								p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343																																						uc010lyz.3																			2	Substitution - coding silent(2)	p.F331F(1)|p.F356F(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.e9+1		Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.							66.0	63.0	64.0					8																	69621313		2203	4300	6503	SO:0001630	splice_region_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69621313C>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1069+1C>T	8.37:g.69621313C>T						C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	p.D443_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		9	1618	+			357					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37	c.1327_splice																																																																																					0.343	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	Silent
KCNB2	9312	broad.mit.edu	37	8	73849588	73849588	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:73849588G>A	ENST00000523207.1	+	3	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGGATGGCACGCTGGAGTATG	0.567																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1996-1998)acG>acA		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							54.0	54.0	54.0					8																	73849588		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849588G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1998G>A	8.37:g.73849588G>A							p.T666T	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	2586	+	Breast(64;0.137)		666					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1998G>A	CCDS6209.1																																																																																				0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
CCNE2	9134	broad.mit.edu	37	8	95900206	95900206	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:95900206A>C	ENST00000520509.1	-	7	801	c.549T>G	c.(547-549)aaT>aaG	p.N183K	CCNE2_ENST00000523476.1_5'UTR|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000308108.4_Missense_Mutation_p.N183K|CCNE2_ENST00000396133.3_Missense_Mutation_p.N183K			O96020	CCNE2_HUMAN	cyclin E2	183					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTTGAAGCATATTTTTATTTA	0.284																																						uc003yhc.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(547-549)aaT>aaG		Homo sapiens cyclin E2 (CCNE2), mRNA.							63.0	68.0	66.0					8																	95900206		2198	4275	6473	SO:0001583	missense	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95900206A>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.549T>G	8.37:g.95900206A>C	ENSP00000429089:p.Asn183Lys					CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	p.N183K	NM_057749	NP_477097	O96020	CCNE2_HUMAN			6	653	-	Breast(36;8.75e-07)		183					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.549T>G	CCDS6264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.63|14.63	2.593437|2.593437	0.46214|0.46214	.|.	.|.	ENSG00000175305|ENSG00000175305	ENST00000524224|ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	.|T;T;T	.|0.10960	.|2.82;2.82;2.82	5.63|5.63	0.687|0.687	0.18020|0.18020	.|Cyclin, N-terminal (1);Cyclin-like (3);	.|0.222920	.|0.53938	.|D	.|0.000053	T|T	0.05273|0.05273	0.0140|0.0140	N|N	0.21373|0.21373	0.66|0.66	0.32443|0.32443	N|N	0.546393|0.546393	.|B;B	.|0.33777	.|0.409;0.425	.|B;B	.|0.36030	.|0.216;0.136	T|T	0.38457|0.38457	-0.9660|-0.9660	5|10	.|0.02654	.|T	.|1	.|.	5.8369|5.8369	0.18613|0.18613	0.5068:0.0:0.3689:0.1243|0.5068:0.0:0.3689:0.1243	.|.	.|183;183	.|Q8WUE3;O96020	.|.;CCNE2_HUMAN	R|K	47|183;183;75;183	.|ENSP00000429089:N183K;ENSP00000309181:N183K;ENSP00000379437:N183K	.|ENSP00000309181:N183K	I|N	-|-	2|3	0|2	CCNE2|CCNE2	95969382|95969382	0.298000|0.298000	0.24417|0.24417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	-0.134000|-0.134000	0.10436|0.10436	-0.100000|-0.100000	0.12241|0.12241	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.284	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702	
ENPP2	5168	broad.mit.edu	37	8	120569830	120569830	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:120569830C>T	ENST00000075322.6	-	25	2581	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	ENPP2_ENST00000427067.2_Silent_p.K862K|ENPP2_ENST00000522826.1_Silent_p.K866K|ENPP2_ENST00000522167.1_Silent_p.K476K|ENPP2_ENST00000259486.6_Silent_p.K893K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	841	Required for secretion. {ECO:0000250}.				cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCGGCTGGTCTTTCGGAAGA	0.468																																					Melanoma(20;305 879 2501 4818 31020)	uc003yos.2																			0		p.R892Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2677-2679)aaG>aaA		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.							191.0	177.0	182.0					8																	120569830		2203	4300	6503	SO:0001819	synonymous_variant	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569830C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2523G>A	8.37:g.120569830C>T						ENPP2_uc011lic.2_Silent_p.K379K|ENPP2_uc003yor.2_Silent_p.K476K|ENPP2_uc010mdd.2_Silent_p.K866K|ENPP2_uc003yot.2_Silent_p.K841K	p.K893K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		25	2765	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		841					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.2679G>A	CCDS34936.1																																																																																				0.468	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
COL14A1	7373	broad.mit.edu	37	8	121326187	121326187	+	Missense_Mutation	SNP	G	G	A	rs142082215		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:121326187G>A	ENST00000297848.3	+	38	4742	c.4472G>A	c.(4471-4473)cGg>cAg	p.R1491Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.R1396Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.R1491Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGGCCCTCGGGGTGAAATT	0.468																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(4471-4473)cGg>cAg		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.		G	GLN/ARG	0,4406		0,0,2203	145.0	143.0	144.0		4472	5.1	1.0	8	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1491/1797	121326187	1,13005	2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121326187G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4472G>A	8.37:g.121326187G>A	ENSP00000297848:p.Arg1491Gln					COL14A1_uc003yoz.3_Missense_Mutation_p.R456Q	p.R1491Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		37	4737	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1491			Triple-helical region 1 (COL2).			Missense_Mutation	SNP	ENST00000297848.3	37	c.4472G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616105	0.66672	0.0	1.16E-4	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.94184	-3.37;-3.37;-3.37	5.97	5.09	0.68999	.	0.179522	0.50627	D	0.000111	D	0.93400	0.7895	N	0.20445	0.575	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93198	0.6589	10	0.35671	T	0.21	.	16.0956	0.81117	0.0:0.1345:0.8655:0.0	.	1491	Q05707	COEA1_HUMAN	Q	1491;1491;1396	ENSP00000311809:R1491Q;ENSP00000297848:R1491Q;ENSP00000247781:R1396Q	ENSP00000247781:R1396Q	R	+	2	0	COL14A1	121395368	1.000000	0.71417	0.980000	0.43619	0.430000	0.31655	4.110000	0.57831	1.511000	0.48818	0.650000	0.86243	CGG		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL22A1	169044	broad.mit.edu	37	8	139606377	139606377	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:139606377C>A	ENST00000303045.6	-	63	4944	c.4498G>T	c.(4498-4500)Ggg>Tgg	p.G1500W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1480W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1500	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGGGGCCCAGGTCTGCCT	0.632										HNSCC(7;0.00092)																												uc003yvd.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4498-4500)Ggg>Tgg		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							34.0	39.0	37.0					8																	139606377		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606377C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4498G>T	8.37:g.139606377C>A	ENSP00000303153:p.Gly1500Trp	HNSCC(7;0.00092)				COL22A1_uc011ljo.2_Missense_Mutation_p.G780W	p.G1500W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		62	4945	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1500			Collagen-like 15.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4498G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061118	0.76074	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99369	-5.78;-5.78	5.92	5.92	0.95590	.	0.000000	0.49916	U	0.000136	D	0.99691	0.9883	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97622	1.0136	10	0.87932	D	0	.	19.3539	0.94402	0.0:1.0:0.0:0.0	.	1480;1500	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1500;1480;1193	ENSP00000303153:G1500W;ENSP00000387655:G1480W	ENSP00000303153:G1500W	G	-	1	0	COL22A1	139675559	1.000000	0.71417	0.909000	0.35828	0.968000	0.65278	7.453000	0.80700	2.820000	0.97059	0.650000	0.86243	GGG		0.632	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
BMP15	9210	broad.mit.edu	37	X	50659431	50659431	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:50659431C>A	ENST00000252677.3	+	2	1003	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	335					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCAATTCCCCCAATCACGC	0.502																																						uc011mnw.2																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(1003-1005)Ccc>Acc		Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.							137.0	118.0	125.0					X																	50659431		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659431C>A	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1003C>A	X.37:g.50659431C>A	ENSP00000252677:p.Pro335Thr						p.P335T	NM_005448	NP_005439	O95972	BMP15_HUMAN			1	1052	+	Ovarian(276;0.236)		335					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1003C>A	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.138055	0.37728	.	.	ENSG00000130385	ENST00000252677	D	0.87179	-2.22	5.58	4.71	0.59529	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	N	0.20610	0.595	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.80701	-0.1265	10	0.02654	T	1	.	12.6196	0.56595	0.1666:0.8334:0.0:0.0	.	335	O95972	BMP15_HUMAN	T	335	ENSP00000252677:P335T	ENSP00000252677:P335T	P	+	1	0	BMP15	50676171	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	5.806000	0.69150	1.110000	0.41699	0.594000	0.82650	CCC		0.502	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
BCORL1	63035	broad.mit.edu	37	X	129162640	129162640	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:129162640C>T	ENST00000218147.7	+	8	4306	c.4109C>T	c.(4108-4110)tCc>tTc	p.S1370F	BCORL1_ENST00000540052.1_Missense_Mutation_p.S1370F|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1240F|BCORL1_ENST00000303743.5_Missense_Mutation_p.S1370F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1370					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGACTTCCTCCTCCCAAAGT	0.483											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc022cdu.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4108-4110)tCc>tTc		Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.							121.0	128.0	126.0					X																	129162640		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129162640C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4109C>T	X.37:g.129162640C>T	ENSP00000218147:p.Ser1370Phe		OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1570	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.2_Missense_Mutation_p.S132F	p.S1370F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			6	4153	+			1370					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4109C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647563	0.87958	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.41065	1.02;1.38;1.01;1.02;1.44	5.89	5.89	0.94794	.	0.449907	0.16644	N	0.205516	T	0.45558	0.1348	N	0.08118	0	0.47374	D	0.999406	P;D;D	0.71674	0.936;0.993;0.998	P;P;D	0.63488	0.735;0.906;0.915	T	0.55386	-0.8149	10	0.59425	D	0.04	.	17.8106	0.88614	0.0:1.0:0.0:0.0	.	1240;1370;1370	Q5H9F3-2;Q5H9F3-3;Q5H9F3	.;.;BCORL_HUMAN	F	1370;1370;1240;1370;970	ENSP00000218147:S1370F;ENSP00000307541:S1370F;ENSP00000352253:S1240F;ENSP00000437775:S1370F;ENSP00000399483:S970F	ENSP00000218147:S1370F	S	+	2	0	BCORL1	128990321	0.291000	0.24352	1.000000	0.80357	0.885000	0.51271	2.604000	0.46274	2.480000	0.83734	0.600000	0.82982	TCC		0.483	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
